Database TCIRG1base
Version 1.0
File TCIRG1pub.html
Date 04-Sep-2001
Curator Mauno Vihinen
Address Institute of Medical Technology
Address FIN-33014 UNIVERSITY OF TAMPERE, Finland
Phone +358-3-215 7735
Fax +358-3-215 7710
Email Mauno.Vihinen@uta.fi
URL http://bioinf.uta.fi/TCIRG1base/
Gene TCIRG1
Disease autosomal recessive osteopetrosis
OMIM 604592
GDB 9956269
Sequence EMBL:AF033033; OC116RNA; SWISSPROT: Q13488
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding Sigrid Juselius Foundation
Funding EU concerted action Biomed2 'PL963007'
Comments sequence entry reference in every entry;
//
ID Intron 2(1),Intron 2(1); standard; MUTATION;
Accession T0010
Systematic name Allele 1 and 2: g.IVS2+4A>T, c.136_177del, p.V26_L40del
Original code T
Description Allele 1 and 2: point mutation in the intron 2 leading to
Description usage of an upstream cryptic donor splice site in the exon
Description 2 and inframe deletion of 14 amino acids
Date 09-Feb-2001 (Rel. 1, Created)
Date 09-Feb-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef MEDLINE; 20400146
RefAuthors Kornak, U., Schulz, A., Friedrich, W., Uhlhaas, S.,
RefAuthors Kremens, B., Voit, T., Hasan, C., Bode, U., Jentsch, T.
RefAuthors J., Kubisch, C.
RefTitle Mutations in the a3 subunit of the vacuolar H(+)-ATPase
RefTitle cause infantile malignant osteopetrosis
RefLoc Hum. Mol. Genet. 9:2059-2063 (2000)
DB CrossRef OMIM; 604592.0004
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF033033: 2418
Feature /change: a -> t
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: OC116RNA: 136..177
Feature /change: -gtgagtcggc tgggcgagct gggcctcgtg gagttcagag
Feature /change: ac
Feature /inexloc: +4
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 26..39
Feature /change: -VSRLGELGLV EFRD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AF033033: 2418
Feature /change: a -> t
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: OC116RNA: 136..177
Feature /change: -gtgagtcggc tgggcgagct gggcctcgtg gagttcagag
Feature /change: ac
Feature /inexloc: +4
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 26..39
Feature /change: -VSRLGELGLV EFRD
Parents Parental consanguineity: Documented
Ethnic origin Turkey
//
ID Intron 2(2),Intron 2(2); standard; MUTATION;
Accession T0014
Original code P9
Systematic name Allele 1 and 2: g.IVS2+1G>A
Description Allele 1 and 2: point mutation in the intron 2
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF033033: 2415
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AF033033: 2415
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
//
ID Intron 2(3),Intron 6(1); standard; MUTATION;
Accession T0015
Systematic name Allele 1: g.IVS2+4A>T
Systematic name Allele 2: g.IVS6+2T>C
Original code P10
Description Allele 1: point mutation in the intron 2
Description Allele 2: unknown mutation in the intron 6
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF033033: 2418
Feature /change: a -> t
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +4
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AF033033: 4525
Feature /change: t -> c
Feature /genomic_region: intron; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
//
ID Intron 5(1),#G211-14(1); standard; MUTATION;
Accession T0004
Systematic name Allele 1: g.4391C>A, [c.564_690del; c.564_574del],
Systematic name [p.N168fsX175; p.N168fsX182]
Systematic name Allele 2: g.4637G>A, c.691_732del, p.G211_G225del
Original code P4
Description Allele 1; point mutation in the intron 5 leading to
Description alternative splicing, frameshift and premature termination
Description Allele 2; nonsense mutation in the exon 2
Date 23-Jan-2001 (Rel. 1, Created)
Date 23-Jan-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef MEDLINE; 20347724
RefAuthors Frattini, A., Orchard, P. J., Sobacchi, C., Giliani, S.,
RefAuthors Abinun, M., Mattsson, J. P., Keeling, D. J., Andersson,
RefAuthors A. K., Wallbrandt, P., Zecca, L., Notarangelo, L. D.,
RefAuthors Vezzoni, P., Villa, A.
RefTitle Defects in TCIRG1 subunit of the vacuolar proton pump are
RefTitle responsible for a subset of human autosomal recessive
RefTitle osteopetrosis
RefLoc Nat. Genet. 25:343-346 (2000)
RefNumber [2]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF033033: 4391
Feature /change: c -> a
Feature /genomic_region: intron; 5
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: EMBL: AF033033: 4391
Feature /change: c -> a
Feature /genomic_region: intron; 5
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: frameshift; alternative splicing
Feature /loc: OC116RNA: 564..690
Feature /change: -ctttgtggca ggtgccgtgg agccccacaa ggcccctgcc
Feature /change: ctagagcgcc tgctctggag ggcctgccgc ggcttcctca
Feature /change: ttgccagctt cagggagctg gagcagccgc tggagcaccc
Feature /change: cgtgacg
Feature /inexloc: -6
Feature /note: deletion of exon 6
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 5
Feature /name: frameshift; alternative splicing
Feature /loc: OC116RNA: 564..574
Feature /change: -ctttgtggca g
Feature aa; 5
Feature /rnalink: 3
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 168..210
Feature /change: NFVAGAVEPH KAPALERLLW RACRGFLIAS FRELEQPLEH
Feature /change: PVT
Feature /change: -> KASQPRGX
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 168..172
Feature /change: NFVAG
Feature /change: -> KCRGAPQGPC PRAPALEGLP RLPHCQLQGA GAAAGAPRDG
Feature /change: RASHVDDLPH LLLGX
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: point
Feature /loc: EMBL: AF033033: 4637
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: inframe deletion
Feature /loc: OC116RNA: 691..732
Feature /change: -ggcgagccag ccacgtggat gaccttcctc atctcctact
Feature /change: gg
Feature /note: greate a cryptic acceptor site within exon 7
Feature /note: deletion of the first 42 nt of the exon 7
Feature aa; 9
Feature /rnalink: 8
Feature /name: deletion; inframe
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 211..224
Feature /change: -GEPATWMTFL ISYW
Symptoms Age at onset: Birth
Sex XY
Treatment BMT: Age at 2 months
Treatment BMT type of donor: HLA-matched unrelated donor
Treatment BMT outcome: Alive
//
ID Q230X(1),Q230X(1); standard; MUTATION;
Accession T0018
Systematic name Allele 1 and 2: g.4654C>T, c.748C>T, p.Q230X
Original code P13
Description Allele 1 and 2: point mutation in the exon 7
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF033033: 4654
Feature /change: c -> t
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: OC116RNA: 748
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 230
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AF033033: 4654
Feature /change: c -> t
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: OC116RNA: 748
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 230
Feature /change: Q -> X
//
ID Intron 7(1),#M791X819(1); standard; MUTATION;
Accession T0005
Systematic name Allele 1: g.IVS7+1G>T
Systematic name Allele 2: g.11647_11650delGGAG, c.2433_2436delGGAG, p.M791fsX819
Original code P5
Description Allele 1: point mutation in the intron 7
Description Allele 2: frameshift deletion in the exon 19
Date 25-Jan-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef MEDLINE; 20347724
RefAuthors Frattini, A., Orchard, P. J., Sobacchi, C., Giliani, S.,
RefAuthors Abinun, M., Mattsson, J. P., Keeling, D. J., Andersson,
RefAuthors A. K., Wallbrandt, P., Zecca, L., Notarangelo, L. D.,
RefAuthors Vezzoni, P., Villa, A.
RefTitle Defects in TCIRG1 subunit of the vacuolar proton pump are
RefTitle responsible for a subset of human autosomal recessive
RefTitle osteopetrosis
RefLoc Nat. Genet. 25:343-346 (2000)
RefNumber [2]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF033033: 4680
Feature /change: g -> t
Feature /genomic_region: intron; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AF033033: 11647..11650
Feature /change: -ggag
Feature /genomic_region: exon; 19
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: OC116RNA: 2433..2436
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 791..792
Feature /change: ME -> MDSQPSCTPC GCTGWNSRTS STQARATSX
//
ID Intron 7(2),Intron 14(6); standard; MUTATION;
Accession T0023
Systematic name Allele 1: g.IVS7+1G>T
Systematic name Allele 2: g.IVS14-1G>A
Original code P18
Description Allele 1: point mutation in the intron 7
Description Allele 2: unknown mutation in the intron 14
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF033033: 4680
Feature /change: g -> t
Feature /genomic_region: intron; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AF033033: 10106
Feature /change: g -> a
Feature /genomic_region: intron; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Ethnic origin Belgium
//
ID Intron 7(3),?; standard; MUTATION;
Accession T0027
Systematic name Allele 1: g.IVS7+1G>T
Original code S1
Description Allele 1: point mutation in the intron 7
Description Allele 2: no detected mutation
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF033033: 4680
Feature /change: g -> t
Feature /genomic_region: intron; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Ethnic origin Belgium
//
ID Q372X(1),?; standard; MUTATION;
Accession T0029
Systematic name Allele 1: g.6078C>T, c.1174C>T, p.Q372X
Original code S3
Description Allele 1: point mutation in the exon 10
Description Allele 2: no detected mutation
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF033033: 6078
Feature /change: c -> t
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: OC116RNA: 1174
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 372
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
//
ID C248X(1),Intron 14(2); standard; MUTATION;
Accession T0002
Systematic name Allele 1: g.8759C>A, c.1280C>A, p.C248X
Systematic name Allele 2: g.IVS14-1G>A, [c.1735_1947del; c.1735_1916del +
Systematic name c.1916_1917ins1916+1_1916+143]
Original code P2
Description Allele 1; nonsense mutation in the exon 7
Description Allele 2; point mutation in the intron 14 acceptor site
Description leading to abnormal splicing, frameshift and premature
Description termination
Date 23-Jan-2001 (Rel. 1, Created)
Date 23-Jan-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef MEDLINE; 20347724
RefAuthors Frattini, A., Orchard, P. J., Sobacchi, C., Giliani, S.,
RefAuthors Abinun, M., Mattsson, J. P., Keeling, D. J., Andersson,
RefAuthors A. K., Wallbrandt, P., Zecca, L., Notarangelo, L. D.,
RefAuthors Vezzoni, P., Villa, A.
RefTitle Defects in TCIRG1 subunit of the vacuolar proton pump are
RefTitle responsible for a subset of human autosomal recessive
RefTitle osteopetrosis
RefLoc Nat. Genet. 25:343-346 (2000)
RefNumber [2]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
DB CrossRef OMIM; 604592.0002
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF033033: 8759
Feature /change: c -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AF025374; g1245046; AF025374: 1280
Feature /codon: tgc -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; SHORT_ISOFORM: 248
Feature /change: C -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 6
Feature /name: point
Feature /loc: EMBL: AF033033: 10106
Feature /change: g -> a
Feature /genomic_region: intron; 14
Feature dna; 5
Feature /rnalink: 6
Feature /name: point
Feature /loc: EMBL: AF033033: 10106
Feature /change: g -> a
Feature /genomic_region: intron; 14
Feature rna; 6
Feature /dnalink: 4
Feature /aalink: 8
Feature /name: deletion; frameshift; alternative splicing
Feature /loc: OC116RNA: 1735..1947
Feature /change: -gcactttggc cagaggcacc ggctgctgct ggagacgctg
Feature /change: ccggagctca ccttcctgct gggactcttc ggttacctcg
Feature /change: tgttcctagt catctacaag tggctgtgtg tctgggctgc
Feature /change: cagggccgcc tcggccccca gcatcctcat ccacttcatc
Feature /change: aacatgttcc tcttctccca cagccccagc aacaggctgc
Feature /change: tctacccccg gcag
Feature /genomic_region: exon; 15
Feature /inexloc: -1
Feature /note: deletion of exon 15
Feature rna; 7
Feature /dnalink: 5
Feature /aalink: 9
Feature /name: complex; frameshift; alternative splicing
Feature /loc: OC116RNA: 1735..1916
Feature /change: -gcactttggc cagaggcacc ggctgctgct ggagacgctg
Feature /change: ccggagctca ccttcctgct gggactcttc ggttacctcg
Feature /change: tgttcctagt catctacaag tggctgtgtg tctgggctgc
Feature /change: cagggccgcc tcggccccca gcatcctcat ccacttcatc
Feature /change: aacatgttcc tcttctccca cag
Feature /loc: OC116RNA: 1917
Feature /change: +gtgggctgcg gctggtgggg gccgggctca cacggcctca
Feature /change: tggggacccc gcggtcacag ggccactggg agctgcaaga
Feature /change: tcctcgtccg agaaacgggg atgcaggccc cgggccgtgc
Feature /change: agacagggcc gtcagaggtg atg
Feature /genomic_region: exon; 15
Feature /inexloc: -1
Feature /note: use a cryptic acceptor site within exon 10 and
Feature /note: a donor site in the intron 15
Feature aa; 8
Feature /rnalink: 6
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 558..629
Feature /change: VHFGQRHRLL LETLPELTFL LGLFGYLVFL VIYKWLCVWA
Feature /change: ARAASAPSIL IHFINMFLFS HSPSNRLLYP RQ
Feature /change: -> VRWSRPRWWS WPWPWCPSCC LAHPCTCCTA TAAACGGGPL
Feature /change: TDRRKTRPGC WTCLTHLX
Feature aa; 9
Feature /rnalink: 7
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 558..619
Feature /change: VHFGQRHRLL LETLPELTFL LGLFGYLVFL VIYKWLCVWA
Feature /change: ARAASAPSIL IHFINMFLFS HS
Feature /change: -> V
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 630
Feature /change: E
Feature /change: -> VGCGWWGPGS HGLMGTPRSQ GHWELQDPRP RNGDAGPGPC
Feature /change: RQGRQRX
//
ID #Q308X311(1),Intron 14(1); standard; MUTATION;
Accession T0001
Systematic name Allele 1: g.5272delC, c.982delC, p.Q308fsX311
Systematic name Allele 2: g.IVS14-1G>A, [c.1735_1947del; c.1735_1916del +
Systematic name c.1916_1917ins1916+1_1916+143]
Original code P1
Description Allele 1; frameshift deletion in the exon 9
Description Allele 2; point mutation in the intron 14 acceptor site
Description leading to abnormal splicing, frameshift and premature
Description termination
Date 23-Jan-2001 (Rel. 1, Created)
Date 23-Jan-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef MEDLINE; 99064942
RefAuthors Eapen, M., Davies, S. M., Ramsay, N. K., Orchard, P. J.
RefTitle Hematopoietic stem cell transplantation for infantile
RefTitle osteopetrosis
RefLoc Bone Marrow Transplant. 22:941-946 (1998)
RefNumber [2]
RefCrossRef MEDLINE; 20347724
RefAuthors Frattini, A., Orchard, P. J., Sobacchi, C., Giliani, S.,
RefAuthors Abinun, M., Mattsson, J. P., Keeling, D. J., Andersson,
RefAuthors A. K., Wallbrandt, P., Zecca, L., Notarangelo, L. D.,
RefAuthors Vezzoni, P., Villa, A.
RefTitle Defects in TCIRG1 subunit of the vacuolar proton pump are
RefTitle responsible for a subset of human autosomal recessive
RefTitle osteopetrosis
RefLoc Nat. Genet. 25:343-346 (2000)
RefNumber [3]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
DB CrossRef OMIM; 604592.0001
DB CrossRef OMIM; 604592.0003
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF033033: 5272
Feature /change: -c
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: OC116RNA: 982
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 308
Feature /change: Q -> SAAX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 6
Feature /name: point
Feature /loc: EMBL: AF033033: 10106
Feature /change: g -> a
Feature /genomic_region: intron; 14
Feature dna; 5
Feature /rnalink: 6
Feature /name: point
Feature /loc: EMBL: AF033033: 10106
Feature /change: g -> a
Feature /genomic_region: intron; 14
Feature rna; 6
Feature /dnalink: 4
Feature /aalink: 8
Feature /name: deletion; frameshift; alternative splicing
Feature /loc: OC116RNA: 1735..1947
Feature /change: -gcactttggc cagaggcacc ggctgctgct ggagacgctg
Feature /change: ccggagctca ccttcctgct gggactcttc ggttacctcg
Feature /change: tgttcctagt catctacaag tggctgtgtg tctgggctgc
Feature /change: cagggccgcc tcggccccca gcatcctcat ccacttcatc
Feature /change: aacatgttcc tcttctccca cagccccagc aacaggctgc
Feature /change: tctacccccg gcag
Feature /genomic_region: exon; 15
Feature /inexloc: -1
Feature /note: deletion of exon 15
Feature rna; 7
Feature /dnalink: 5
Feature /aalink: 9
Feature /name: complex; frameshift; alternative splicing
Feature /loc: OC116RNA: 1735..1916
Feature /change: -gcactttggc cagaggcacc ggctgctgct ggagacgctg
Feature /change: ccggagctca ccttcctgct gggactcttc ggttacctcg
Feature /change: tgttcctagt catctacaag tggctgtgtg tctgggctgc
Feature /change: cagggccgcc tcggccccca gcatcctcat ccacttcatc
Feature /change: aacatgttcc tcttctccca cag
Feature /loc: OC116RNA: 1917
Feature /change: +gtgggctgcg gctggtgggg gccgggctca cacggcctca
Feature /change: tggggacccc gcggtcacag ggccactggg agctgcaaga
Feature /change: tcctcgtccg agaaacgggg atgcaggccc cgggccgtgc
Feature /change: agacagggcc gtcagaggtg atg
Feature /genomic_region: exon; 15
Feature /inexloc: -1
Feature /note: use a cryptic acceptor site within exon 10 and
Feature /note: a donor site in the intron 15
Feature aa; 8
Feature /rnalink: 6
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 558..629
Feature /change: VHFGQRHRLL LETLPELTFL LGLFGYLVFL VIYKWLCVWA
Feature /change: ARAASAPSIL IHFINMFLFS HSPSNRLLYP RQ
Feature /change: -> VRWSRPRWWS WPWPWCPSCC LAHPCTCCTA TAAACGGGPL
Feature /change: TDRRKTRPGC WTCLTHLX
Feature aa; 9
Feature /rnalink: 7
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 558..619
Feature /change: VHFGQRHRLL LETLPELTFL LGLFGYLVFL VIYKWLCVWA
Feature /change: ARAASAPSIL IHFINMFLFS HS
Feature /change: -> V
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 630
Feature /change: E
Feature /change: -> VGCGWWGPGS HGLMGTPRSQ GHWELQDPRP RNGDAGPGPC
Feature /change: RQGRQRX
Symptoms Age at onset: 3
Sex XY
Treatment BMT: Age at 19 months
Treatment BMT type of donor: HLA-matched unrelated donor
Treatment BMT outcome: Alive
//
ID @C324X489(1),@C324X489(1); confidential; MUTATION;
Accession T0025
Systematic name Allele 1 and 2: g.5320_5321insG, c.1030_1031insG, p.C324fsX489
Original code P20
Description Allele 1 and 2: insertion in the exon 9
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: EMBL: AF033033: 5321
Feature /change: +g
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: OC116RNA: 1031
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 324
Feature /change: C
Feature /change: -> WLCARPARPA GGPAGQLDGG GSECRGSPHP LPGHAPHTHP
Feature /change: HQPLHGQLPG HRGCLRRGPL PGGQPRSLHH HHLPLPVCCD
Feature /change: VRGCGPRAAH VPLRPGHGPC GEPTGCEGRA ERDLADFLQG
Feature /change: PLPAPAYGPV LHLHRLHLQR VLQSRHQHLP LGLECGRHGQ
Feature /change: PVWLEX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: EMBL: AF033033: 5321
Feature /change: +g
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: OC116RNA: 1031
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 324
Feature /change: C
Feature /change: -> WLCARPARPA GGPAGQLDGG GSECRGSPHP LPGHAPHTHP
Feature /change: HQPLHGQLPG HRGCLRRGPL PGGQPRSLHH HHLPLPVCCD
Feature /change: VRGCGPRAAH VPLRPGHGPC GEPTGCEGRA ERDLADFLQG
Feature /change: PLPAPAYGPV LHLHRLHLQR VLQSRHQHLP LGLECGRHGQ
Feature /change: PVWLEX
//
ID E342X(1),?; standard; MUTATION;
Accession T0006
Systematic name Allele 1 and 2: g.5988G>T, c.1084G>T, p.E342X
Original code B
Description Allele 1: nonsense mutation in the exon 10
Description Allele 2: no detected mutation
Date 26-Jan-2001 (Rel. 1, Created)
Date 26-Jan-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef MEDLINE; 20400146
RefAuthors Kornak, U., Schulz, A., Friedrich, W., Uhlhaas, S.,
RefAuthors Kremens, B., Voit, T., Hasan, C., Bode, U., Jentsch, T.
RefAuthors J., Kubisch, C.
RefTitle Mutations in the a3 subunit of the vacuolar H(+)-ATPase
RefTitle cause infantile malignant osteopetrosis
RefLoc Hum. Mol. Genet. 9:2059-2063 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF033033: 5988
Feature /change: g -> t
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: OC116RNA: 1084
Feature /codon: gag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 342
Feature /change: E -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
//
ID @Y391X489(1),?; standard; MUTATION;
Accession T0028
Systematic name Allele 1: g.8463_8464insA, c.1230_1231insA, p.Y391fsX489
Original code S2
Description Allele 1 and 2: insertion in the exon 11
Description Allele 2: no detected mutation
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: EMBL: AF033033: 8464
Feature /change: +a
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: OC116RNA: 1231
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 391
Feature /change: Y
Feature /change: -> IHHHHLPLPV CCDVRGCGPR AAHVPLRPGH GPCGEPTGCE
Feature /change: GRAERDLADF LQGPLPAPAY GPVLHLHRLH LQRVLQSRHQ
Feature /change: HLPLGLECGR HGQPVWLEX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
//
ID Q433X(1),Q433X(1); standard; MUTATION;
Accession T0019
Systematic name Allele 1 and 2: g.8590C>T, c.1357C>T, p.Q433X
Original code P14
Description Allele 1 and 2: point mutation in the exon 11
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF033033: 8590
Feature /change: c -> t
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: OC116RNA: 1357
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 433
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AF033033: 8590
Feature /change: c -> t
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: OC116RNA: 1357
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 433
Feature /change: Q -> X
Ethnic origin Yugoslavia
//
ID Q433X(2),Q433X(2); standard; MUTATION;
Accession T0020
Systematic name Allele 1 and 2: g.8590C>T, c.1357C>T, p.Q433X
Original code P15
Description Allele 1 and 2: point mutation in the exon 11
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF033033: 8590
Feature /change: c -> t
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: OC116RNA: 1357
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 433
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AF033033: 8590
Feature /change: c -> t
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: OC116RNA: 1357
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 433
Feature /change: Q -> X
Ethnic origin Turkey
//
ID #Y461-1(1),#Y461-1(1); standard; MUTATION;
Accession T0013
Original code P8
Systematic name Allele 1 and 2: g.8749_8751delACA, c.1442_1444delACA, p.Y461del
Description Allele 1 and 2: deletion in the exon 12
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF033033: 8749..8751
Feature /change: -aca
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: OC116RNA: 1442..1444
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 461..462
Feature /change: YN -> Y
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AF033033: 8749..8751
Feature /change: -aca
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: OC116RNA: 1442..1444
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 461..462
Feature /change: YN -> Y
//
ID #A480X488(1),#A480X488(1); standard; MUTATION;
Accession T0009
Systematic name Allele 1 and 2: g.8805_8806delGC, c.1498_1499delGC,
Systematic name p.A480fsX488
Original code T
Description Allele 1 and 2; frameshift deletion in the exon 12
Date 29-Jan-2001 (Rel. 1, Created)
Date 29-Jan-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef MEDLINE; 20400146
RefAuthors Kornak, U., Schulz, A., Friedrich, W., Uhlhaas, S.,
RefAuthors Kremens, B., Voit, T., Hasan, C., Bode, U., Jentsch, T.
RefAuthors J., Kubisch, C.
RefTitle Mutations in the a3 subunit of the vacuolar H(+)-ATPase
RefTitle cause infantile malignant osteopetrosis
RefLoc Hum. Mol. Genet. 9:2059-2063 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF033033: 8805..8806
Feature /change: -gc
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: OC116RNA: 1498..1499
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 480
Feature /change: A -> HGQPVWLEX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AF033033: 8805..8806
Feature /change: -gc
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: OC116RNA: 1498..1499
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 480
Feature /change: A -> HGQPVWLEX
Parents Parental consanguineity: Documented
Ethnic origin Turkey
//
ID Intron 13(1),Intron 16(1); standard; MUTATION;
Accession T0026
Systematic name Allele 1: g.IVS13+2T>A
Systematic name Allele 2: g.IVS16-8T>C
Original code P21
Description Allele 1: point mutation in the intron 13
Description Allele 2: unknown mutation in the intron 16
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF033033: 9000
Feature /change: t -> a
Feature /genomic_region: intron; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AF033033: 10978
Feature /change: t -> c
Feature /genomic_region: intron; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -8
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
//
ID Intron 14(3),Intron 14(3); standard; MUTATION;
Accession T0003
Systematic name Allele 1 and 2: g.IVS14-1G>A, [c.1735_1947del;
Systematic name c.1735_1916del + c.1916_1917ins1916+1_1916+143]
Original code P3
Description Allele 1 and 2; point mutation in the intron 14 acceptor
Description site leading to abnormal splicing, frameshift and
Description premature termination
Date 23-Jan-2001 (Rel. 1, Created)
Date 23-Jan-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef MEDLINE; 20347724
RefAuthors Frattini, A., Orchard, P. J., Sobacchi, C., Giliani, S.,
RefAuthors Abinun, M., Mattsson, J. P., Keeling, D. J., Andersson,
RefAuthors A. K., Wallbrandt, P., Zecca, L., Notarangelo, L. D.,
RefAuthors Vezzoni, P., Villa, A.
RefTitle Defects in TCIRG1 subunit of the vacuolar proton pump are
RefTitle responsible for a subset of human autosomal recessive
RefTitle osteopetrosis
RefLoc Nat. Genet. 25:343-346 (2000)
RefNumber [2]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: EMBL: AF033033: 10106
Feature /change: g -> a
Feature /genomic_region: intron; 9
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: EMBL: AF033033: 10106
Feature /change: g -> a
Feature /genomic_region: intron; 9
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: deletion; frameshift; alternative splicing
Feature /loc: OC116RNA: 1735..1947
Feature /change: -gcactttggc cagaggcacc ggctgctgct ggagacgctg
Feature /change: ccggagctca ccttcctgct gggactcttc ggttacctcg
Feature /change: tgttcctagt catctacaag tggctgtgtg tctgggctgc
Feature /change: cagggccgcc tcggccccca gcatcctcat ccacttcatc
Feature /change: aacatgttcc tcttctccca cagccccagc aacaggctgc
Feature /change: tctacccccg gcag
Feature /genomic_region: exon; 15
Feature /inexloc: -1
Feature /note: deletion of exon 15
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: complex; frameshift; alternative splicing
Feature /loc: OC116RNA: 1735..1916
Feature /change: -gcactttggc cagaggcacc ggctgctgct ggagacgctg
Feature /change: ccggagctca ccttcctgct gggactcttc ggttacctcg
Feature /change: tgttcctagt catctacaag tggctgtgtg tctgggctgc
Feature /change: cagggccgcc tcggccccca gcatcctcat ccacttcatc
Feature /change: aacatgttcc tcttctccca cag
Feature /loc: OC116RNA: 1917
Feature /change: +gtgggctgcg gctggtgggg gccgggctca cacggcctca
Feature /change: tggggacccc gcggtcacag ggccactggg agctgcaaga
Feature /change: tcctcgtccg agaaacgggg atgcaggccc cgggccgtgc
Feature /change: agacagggcc gtcagaggtg atg
Feature /genomic_region: exon; 15
Feature /inexloc: -1
Feature /note: use a cryptic acceptor site within exon 10 and
Feature /note: a donor site in the intron 15
Feature aa; 5
Feature /rnalink: 3
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 558..629
Feature /change: VHFGQRHRLL LETLPELTFL LGLFGYLVFL VIYKWLCVWA
Feature /change: ARAASAPSIL IHFINMFLFS HSPSNRLLYP RQ
Feature /change: -> VRWSRPRWWS WPWPWCPSCC LAHPCTCCTA TAAACGGGPL
Feature /change: TDRRKTRPGC WTCLTHLX
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 558..619
Feature /change: VHFGQRHRLL LETLPELTFL LGLFGYLVFL VIYKWLCVWA
Feature /change: ARAASAPSIL IHFINMFLFS HS
Feature /change: -> V
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 630
Feature /change: E
Feature /change: -> VGCGWWGPGS HGLMGTPRSQ GHWELQDPRP RNGDAGPGPC
Feature /change: RQGRQRX
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 9
Feature /name: point
Feature /loc: EMBL: AF033033: 10106
Feature /change: g -> a
Feature /genomic_region: intron; 9
Feature dna; 8
Feature /rnalink: 10
Feature /name: point
Feature /loc: EMBL: AF033033: 10106
Feature /change: g -> a
Feature /genomic_region: intron; 9
Feature rna; 9
Feature /dnalink: 7
Feature /aalink: 11
Feature /name: deletion; frameshift; alternative splicing
Feature /loc: OC116RNA: 1735..1947
Feature /change: -gcactttggc cagaggcacc ggctgctgct ggagacgctg
Feature /change: ccggagctca ccttcctgct gggactcttc ggttacctcg
Feature /change: tgttcctagt catctacaag tggctgtgtg tctgggctgc
Feature /change: cagggccgcc tcggccccca gcatcctcat ccacttcatc
Feature /change: aacatgttcc tcttctccca cagccccagc aacaggctgc
Feature /change: tctacccccg gcag
Feature /genomic_region: exon; 15
Feature /inexloc: -1
Feature /note: deletion of exon 15
Feature rna; 10
Feature /dnalink: 8
Feature /aalink: 12
Feature /name: complex; frameshift; alternative splicing
Feature /loc: OC116RNA: 1735..1916
Feature /change: -gcactttggc cagaggcacc ggctgctgct ggagacgctg
Feature /change: ccggagctca ccttcctgct gggactcttc ggttacctcg
Feature /change: tgttcctagt catctacaag tggctgtgtg tctgggctgc
Feature /change: cagggccgcc tcggccccca gcatcctcat ccacttcatc
Feature /change: aacatgttcc tcttctccca cag
Feature /loc: OC116RNA: 1917
Feature /change: +gtgggctgcg gctggtgggg gccgggctca cacggcctca
Feature /change: tggggacccc gcggtcacag ggccactggg agctgcaaga
Feature /change: tcctcgtccg agaaacgggg atgcaggccc cgggccgtgc
Feature /change: agacagggcc gtcagaggtg atg
Feature /genomic_region: exon; 15
Feature /inexloc: -1
Feature /note: use a cryptic acceptor site within exon 10 and
Feature /note: a donor site in the intron 15
Feature aa; 11
Feature /rnalink: 9
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 558..629
Feature /change: VHFGQRHRLL LETLPELTFL LGLFGYLVFL VIYKWLCVWA
Feature /change: ARAASAPSIL IHFINMFLFS HSPSNRLLYP RQ
Feature /change: -> VRWSRPRWWS WPWPWCPSCC LAHPCTCCTA TAAACGGGPL
Feature /change: TDRRKTRPGC WTCLTHLX
Feature aa; 12
Feature /rnalink: 10
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 558..619
Feature /change: VHFGQRHRLL LETLPELTFL LGLFGYLVFL VIYKWLCVWA
Feature /change: ARAASAPSIL IHFINMFLFS HS
Feature /change: -> V
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 630
Feature /change: E
Feature /change: -> VGCGWWGPGS HGLMGTPRSQ GHWELQDPRP RNGDAGPGPC
Feature /change: RQGRQRX
Symptoms Age at onset: 2.5
Sex XY
Treatment BMT: Age at 7 months
Treatment BMT type of donor: HLA-matched family donor
Treatment BMT outcome: Alive
//
ID Intron 14(4),#I776-1(1); standard; MUTATION;
Accession T0011
Systematic name Allele 1: g.IVS14-1G>A, [c.1735_1947del; c.1735_1916del +
Systematic name c.1916_1917ins1916+1_1916+143]
Systematic name Allele 2: g.11602_11610delCTTTGCCGC,
Systematic name c.2388_2396delCTTTGCCGC, p.I776del
Original code P6
Description Allele 1: point mutation in the intron 14 acceptor site
Description leading to abnormal splicing, frameshift and premature
Description termination
Description Allele 2: inframe deletion in the exon 19
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: EMBL: AF033033: 10106
Feature /change: g -> a
Feature /genomic_region: intron; 9
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: EMBL: AF033033: 10106
Feature /change: g -> a
Feature /genomic_region: intron; 9
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: deletion; frameshift; alternative splicing
Feature /loc: OC116RNA: 1735..1947
Feature /change: -gcactttggc cagaggcacc ggctgctgct ggagacgctg
Feature /change: ccggagctca ccttcctgct gggactcttc ggttacctcg
Feature /change: tgttcctagt catctacaag tggctgtgtg tctgggctgc
Feature /change: cagggccgcc tcggccccca gcatcctcat ccacttcatc
Feature /change: aacatgttcc tcttctccca cagccccagc aacaggctgc
Feature /change: tctacccccg gcag
Feature /genomic_region: exon; 15
Feature /inexloc: -1
Feature /note: deletion of exon 15
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: complex; frameshift; alternative splicing
Feature /loc: OC116RNA: 1735..1916
Feature /change: -gcactttggc cagaggcacc ggctgctgct ggagacgctg
Feature /change: ccggagctca ccttcctgct gggactcttc ggttacctcg
Feature /change: tgttcctagt catctacaag tggctgtgtg tctgggctgc
Feature /change: cagggccgcc tcggccccca gcatcctcat ccacttcatc
Feature /change: aacatgttcc tcttctccca cag
Feature /loc: OC116RNA: 1917
Feature /change: +gtgggctgcg gctggtgggg gccgggctca cacggcctca
Feature /change: tggggacccc gcggtcacag ggccactggg agctgcaaga
Feature /change: tcctcgtccg agaaacgggg atgcaggccc cgggccgtgc
Feature /change: agacagggcc gtcagaggtg atg
Feature /genomic_region: exon; 15
Feature /inexloc: -1
Feature /note: use a cryptic acceptor site within exon 10 and
Feature /note: a donor site in the intron 15
Feature aa; 5
Feature /rnalink: 3
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 558..629
Feature /change: VHFGQRHRLL LETLPELTFL LGLFGYLVFL VIYKWLCVWA
Feature /change: ARAASAPSIL IHFINMFLFS HSPSNRLLYP RQ
Feature /change: -> VRWSRPRWWS WPWPWCPSCC LAHPCTCCTA TAAACGGGPL
Feature /change: TDRRKTRPGC WTCLTHLX
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 558..619
Feature /change: VHFGQRHRLL LETLPELTFL LGLFGYLVFL VIYKWLCVWA
Feature /change: ARAASAPSIL IHFINMFLFS HS
Feature /change: -> V
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 630
Feature /change: E
Feature /change: -> VGCGWWGPGS HGLMGTPRSQ GHWELQDPRP RNGDAGPGPC
Feature /change: RQGRQRX
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: deletion
Feature /loc: EMBL: AF033033: 11602..11610
Feature /change: -ctttgccgc
Feature /genomic_region: exon; 19
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: inframe deletion
Feature /loc: OC116RNA: 2388..2396
Feature aa; 9
Feature /rnalink: 8
Feature /name: deletion; inframe
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 776..779
Feature /change: IFAA -> I
//
ID Intron 14(7),Intron 14(7); standard; MUTATION;
Accession T0024
Systematic name Allele 1 and 2: g.IVS14-1G>A
Original code P19
Description Allele 1 and 2: point mutation in the intron 14
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF033033: 10106
Feature /change: g -> a
Feature /genomic_region: intron; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AF033033: 10106
Feature /change: g -> a
Feature /genomic_region: intron; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
//
ID W596X(1),W596X(1); standard; MUTATION;
Accession T0008
Systematic name Allele 1 and 2: g.10220G>A, c.1848G>A, p.W596X
Original code M
Description Allele 1 and 2; nonsense mutation in the exon 15
Date 26-Jan-2001 (Rel. 1, Created)
Date 26-Jan-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef MEDLINE; 20400146
RefAuthors Kornak, U., Schulz, A., Friedrich, W., Uhlhaas, S.,
RefAuthors Kremens, B., Voit, T., Hasan, C., Bode, U., Jentsch, T.
RefAuthors J., Kubisch, C.
RefTitle Mutations in the a3 subunit of the vacuolar H(+)-ATPase
RefTitle cause infantile malignant osteopetrosis
RefLoc Hum. Mol. Genet. 9:2059-2063 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF033033: 10220
Feature /change: g -> a
Feature /genomic_region: exon; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: OC116RNA: 1848
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 596
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AF033033: 10220
Feature /change: g -> a
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: OC116RNA: 1848
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 596
Feature /change: W -> X
Parents Parental consanguineity: Documented
Ethnic origin German
//
ID R670X(1),R670X(1); standard; MUTATION;
Accession T0016
Systematic name Allele 1 and 2: g.10809C>T, c.2068C>T, p.R670X
Original code P11
Description Allele 1 and 2: point mutation in the exon 16
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF033033: 10809
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: OC116RNA: 2068
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 670
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AF033033: 10809
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: OC116RNA: 2068
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 670
Feature /change: R -> X
Ethnic origin Belgium
//
ID R670X(2),Intron 14(5); standard; MUTATION;
Accession T0017
Systematic name Allele 1: g.10809C>T, c.2068C>T, p.R670X
Systematic name Allele 2: g.IVS14+5G>A
Original code P12
Description Allele 1: point mutation in the exon 16
Description Allele 2: unknown mutation in the intron 14
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF033033: 10809
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: OC116RNA: 2068
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 670
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AF033033: 10028
Feature /change: g -> a
Feature /genomic_region: intron; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Ethnic origin France
//
ID #A705-1(1),#A705-1(1); standard; MUTATION;
Accession T0021
Systematic name Allele 1 and 2: g.11086_11160del, c.2174_2248del, p.A705del
Original code P16
Description Allele 1 and 2: deletion in the exon 17
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AF033033: 11086..11160
Feature /change: -ccgaggtggg tgcagtgcct tcctgggggt gggacggctg
Feature /change: aggccctgcc ggccctcact gcacccgccc cgcag
Feature /genomic_region: exon; 17
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: OC116RNA: 2174..2248
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 705..730
Feature /change: AEVGAVPSWG WDGXGPAGPH CTRPAD -> D
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AF033033: 11086..11160
Feature /change: -ccgaggtggg tgcagtgcct tcctgggggt gggacggctg
Feature /change: aggccctgcc ggccctcact gcacccgccc cgcag
Feature /genomic_region: exon; 17
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: OC116RNA: 2174..2248
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 705..730
Feature /change: AEVGAVPSWG WDGXGPAGPH CTRPAD -> D
//
ID Intron 18(1),Intron 18(1); standard; MUTATION;
Accession T0022
Systematic name Allele 1 and 2: g.IVS18+1G>A
Original code P17
Description Allele 1 and 2: point mutation in the intron 18
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF033033: 11279
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 18
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AF033033: 11279
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 18
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
//
ID P775R(1),P775R(1); standard; MUTATION;
Accession T0012
Systematic name Allele 1 and 2: g.11598C>G, c.2384C>G, p.P775R
Original code P7
Description Allele 1 and 2: point mutation in the exon 19
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF033033: 11598
Feature /change: c -> g
Feature /genomic_region: exon; 19
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: OC116RNA: 2384
Feature /codon: ccc -> cgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 775
Feature /change: P -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AF033033: 11598
Feature /change: c -> g
Feature /genomic_region: exon; 19
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: OC116RNA: 2384
Feature /codon: ccc -> cgc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 775
Feature /change: P -> R
//
ID W805X(1),?; standard; MUTATION;
Accession T0007
Systematic name Allele 1: g.11765G>A, c.2475G>A, p.W805X
Original code K
Description Allele 1: nonsense mutation in the exon 15
Description Allele 2: no detected mutation
Date 26-Jan-2001 (Rel. 1, Created)
Date 26-Jan-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef MEDLINE; 20400146
RefAuthors Kornak, U., Schulz, A., Friedrich, W., Uhlhaas, S.,
RefAuthors Kremens, B., Voit, T., Hasan, C., Bode, U., Jentsch, T.
RefAuthors J., Kubisch, C.
RefTitle Mutations in the a3 subunit of the vacuolar H(+)-ATPase
RefTitle cause infantile malignant osteopetrosis
RefLoc Hum. Mol. Genet. 9:2059-2063 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AF033033: 11765
Feature /change: g -> a
Feature /genomic_region: exon; 20
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: OC116RNA: 2475
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 805
Feature /change: W -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Ethnic origin Turkey
//
ID G405R(1),G405R(1); standard; MUTATION;
Accession T0030
Systematic name Allele 1 and 2: p.G405R
Original code C-1
Description Allele 1 and 2: missense mutation
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: unknown
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 405
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 405
Feature /change: G -> R
//
ID G405R(2),G405R(2); standard; MUTATION;
Accession T0031
Systematic name Allele 1 and 2: p.G405R
Original code C-3
Description Allele 1 and 2: missense mutation
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: unknown
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 405
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 405
Feature /change: G -> R
//
ID G405R(5),G405R(5); standard; MUTATION;
Accession T0034
Systematic name Allele 1 and 2: p.G405R
Original code C-6
Description Allele 1 and 2: missense mutation
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: unknown
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 405
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 405
Feature /change: G -> R
//
ID G405R(7),G405R(7); standard; MUTATION;
Accession T0037
Systematic name Allele 1 and 2: p.G405R
Original code C-11
Description Allele 1 and 2: missense mutation
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: unknown
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 405
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 405
Feature /change: G -> R
//
ID G405R(3),R444L(1); standard; MUTATION;
Accession T0032
Systematic name Allele 1: p.G405R
Systematic name Allele 1: p.R444L
Original code C-4
Description Allele 1 and 2: missense mutation
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: unknown
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 405
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 444
Feature /change: R -> L
//
ID G405R(4),R444L(2); standard; MUTATION;
Accession T0033
Systematic name Allele 1: p.G405R
Systematic name Allele 1: p.R444L
Original code C-5
Description Allele 1 and 2: missense mutation
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: unknown
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 405
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 444
Feature /change: R -> L
//
ID G405R(6),R444L(4); standard; MUTATION;
Accession T0036
Systematic name Allele 1: p.G405R
Systematic name Allele 1: p.R444L
Original code C-9
Description Allele 1 and 2: missense mutation
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: unknown
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 405
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 444
Feature /change: R -> L
//
ID G405R(8),R444L(5); standard; MUTATION;
Accession T0038
Systematic name Allele 1: p.G405R
Systematic name Allele 1: p.R444L
Original code C-14
Description Allele 1 and 2: missense mutation
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: unknown
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 405
Feature /change: G -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 444
Feature /change: R -> L
//
ID R444L(3),R444L(3); standard; MUTATION;
Accession T0035
Systematic name Allele 1 and 2: p.R444L
Original code C-7
Description Allele 1 and 2: missense mutation
Date 04-Sep-2001 (Rel. 1, Created)
Date 04-Sep-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Sobacchi, C., Frattini, A., Orchard, P., Porras, O.,
RefAuthors Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I.,
RefAuthors Canham, N., Chitayat, D., Dupuis-Girod, S., Ellis, I.,
RefAuthors Etzoni, A., Fasth, A. Fisher, A., Gerritsen, B., Gulino,
RefAuthors V., Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M.,
RefAuthors Sacco, M. G., Santagata, S., Schroeder, M. L., Seger, R.,
RefAuthors Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L. D.,
RefAuthors Ochs, H. D., Superti Furga, A., Valiaho, J., van Hove, J.
RefAuthors L. K., Vihinen, M., Vujic, D., Vezzoni, P., Villa, A.
RefTitle The mutational spectrum of human malignant autosomal
RefTitle recessive osteopetrosis
RefLoc Hum. Mol. Genet. 10:1767-1773 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: unknown
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 444
Feature /change: R -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: Q13488; VPP3_HUMAN: 444
Feature /change: R -> L
//
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