Database CIITAbase
Version 1.0
File ciitapub.txt
Date 14-Jun-2007
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/CIITAbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF12.html
Gene CIITA
Disease MHCII transactivating protein deficiency
OMIM 600005
GDB 6268475
Sequence IDRefSeq:D0058; IDRefSeq:C0058; UniProt:P33076
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID E381X(1),Intron 18(1); standard; MUTATION;
Accession M0001
Systematic name Allele 1: g.31469G>T, c.1279G>T, p.E381X
Systematic name Allele 2: g.IVS18+1G>A
Original code BHC
Description Allele 1: point mutation in the exon 11 leading to a
Description premature stop codon
Description Allele 2: point mutation in the intron 18 leading to an
Description amino acid change and an inframe deletion of 28 amino acids
Date 29-Jan-2003 (Rel. 1, Created)
Date 29-Jan-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9099848
RefAuthors Bontron, S., Steimle, V., Ucla, C., Eibl, M. M., Mach, B.
RefTitle Two novel mutations in the MHC class II transactivator
RefTitle CIITA in a second patient from MHC class II deficiency
RefTitle complementation group A.
RefLoc Hum Genet 99:541-546 (1997)
RefNumber [2]
RefCrossRef PUBMED; 11704716
RefAuthors Villard, J., Masternak, K., Lisowska-Grospierre, B.,
RefAuthors Fischer, A., Reith, W.
RefTitle MHC class II deficiency: a disease of gene regulation.
RefLoc Medicine (Baltimore) 80:405-418 (2001)
RefNumber [3]
RefCrossRef PUBMED; 11037300
RefAuthors Vihinen, M., Arredondo-Vega, F. X., Casanova, J. L.,
RefAuthors Etzioni, A., Giliani, S., Hammarstrom, L., Hershfield, M.
RefAuthors S., Heyworth, P. G., Hsu, A. P., Lahdesmaki, A.,
RefAuthors Lappalainen, I., Notarangelo, L. D., Puck, J. M., Reith,
RefAuthors W., Roos, D., Schumacher, R. F., Schwarz, K., Vezzoni, P.,
RefAuthors Villa, A., Valiaho, J., Smith, C. I.
RefTitle Primary immunodeficiency mutation databases.
RefLoc Adv Genet 43:103-188 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0058: 31469
Feature /change: g -> t
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0058: 1279
Feature /codon: gaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P33076; C2TA_HUMAN: 381
Feature /change: E -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0058: 47354
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: intron; 18
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0058: 3372..3455
Feature /change: -cgtccagtac aacaagttca cggctgccgg ggcccagcag
Feature /change: ctcgctgcca gccttcggag gtgtcctcat gtggagacgc
Feature /change: tggc
Feature /note: skipping of exon 18
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P33076; C2TA_HUMAN: 1078..1106
Feature /change: DVQYNKFTAA GAQQLAASLR RCPHVETLA -> E
//
ID L469P(1a),L469P(1a); standard; MUTATION; NACHT,NACHT
Accession M0003
Systematic name Allele 1 and 2: g.31734T>C, c.1544T>C, p.L469P
Original code SaE
Description Allele 1 and 2: point mutation in the exon 11 leading to
Description an amino acid change in the NACHT domain
Date 31-Jan-2003 (Rel. 1, Created)
Date 31-Jan-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11466404
RefAuthors Wiszniewski, W., Fondaneche, M. C., Le Deist, F.,
RefAuthors Kanariou, M., Selz, F., Brousse, N., Steimle, V.,
RefAuthors Barbieri, G., Alcaide-Loridan, C., Charron, D., Fischer,
RefAuthors A., Lisowska-Grospierre, B.
RefTitle Mutation in the class II trans-activator leading to a mild
RefTitle immunodeficiency.
RefLoc J Immunol 167:1787-1794 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0058: 31734
Feature /change: t -> c
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0058: 1544
Feature /codon: ctc -> ccc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P33076; C2TA_HUMAN: 469
Feature /change: L -> P
Feature /domain: NACHT
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0058: 31734
Feature /change: t -> c
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0058: 1544
Feature /codon: ctc -> ccc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P33076; C2TA_HUMAN: 469
Feature /change: L -> P
Feature /domain: NACHT
Symptoms Infections:
Symptoms Bacterial: pneumonia
Symptoms Gastro-intestinal tract manifestations
Sex XX
Age 15
Ethnic origin Caucasoid; Greek
Parents Non-consanguineous
Relative CIITAbase; M0004 sister
Relative CIITAbase; M0005 sister
Relative Other affected family members: Yes; phenotype:same
Comment -!-The patient had very few infections in early childhood
Comment and since then has been asymptomatic without any treatment
//
ID L469P(1b),L469P(1b); standard; MUTATION; NACHT,NACHT
Accession M0004
Systematic name Allele 1 and 2: g.31734T>C, c.1544T>C, p.L469P
Original code SaM
Description Allele 1 and 2: point mutation in the exon 11 leading to
Description an amino acid change in the NACHT domain
Date 31-Jan-2003 (Rel. 1, Created)
Date 31-Jan-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11466404
RefAuthors Wiszniewski, W., Fondaneche, M. C., Le Deist, F.,
RefAuthors Kanariou, M., Selz, F., Brousse, N., Steimle, V.,
RefAuthors Barbieri, G., Alcaide-Loridan, C., Charron, D., Fischer,
RefAuthors A., Lisowska-Grospierre, B.
RefTitle Mutation in the class II trans-activator leading to a mild
RefTitle immunodeficiency.
RefLoc J Immunol 167:1787-1794 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0058: 31734
Feature /change: t -> c
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0058: 1544
Feature /codon: ctc -> ccc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P33076; C2TA_HUMAN: 469
Feature /change: L -> P
Feature /domain: NACHT
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0058: 31734
Feature /change: t -> c
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0058: 1544
Feature /codon: ctc -> ccc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P33076; C2TA_HUMAN: 469
Feature /change: L -> P
Feature /domain: NACHT
Symptoms Infections:
Symptoms Bacterial: pneumonia
Symptoms Septicemia
Symptoms Gastro-intestinal tract manifestations
Symptoms Other clinical features: Recurrent upper respiratory
Symptoms infections since the age of 9 yr
Treatment IVIG: constant
Treatment date started: 1990-1995
Treatment No still on IVIG
Treatment Prophylactic medication
Treatment antibiotics: intermittent
Sex XX
Age 12
Ethnic origin Caucasoid; Greek
Parents Non-consanguineous
Relative CIITAbase; M0003 sister
Relative CIITAbase; M0005 sister
Relative Other affected family members: Yes; phenotype:same
Comment -!-The patient has a mild form of the immunodeficiency
//
ID L469P(1c),L469P(1c); standard; MUTATION; NACHT,NACHT
Accession M0005
Systematic name Allele 1 and 2: g.31734T>C, c.1544T>C, p.L469P
Original code SaA
Description Allele 1 and 2: point mutation in the exon 11 leading to
Description an amino acid change in the NACHT domain
Date 31-Jan-2003 (Rel. 1, Created)
Date 31-Jan-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11466404
RefAuthors Wiszniewski, W., Fondaneche, M. C., Le Deist, F.,
RefAuthors Kanariou, M., Selz, F., Brousse, N., Steimle, V.,
RefAuthors Barbieri, G., Alcaide-Loridan, C., Charron, D., Fischer,
RefAuthors A., Lisowska-Grospierre, B.
RefTitle Mutation in the class II trans-activator leading to a mild
RefTitle immunodeficiency.
RefLoc J Immunol 167:1787-1794 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0058: 31734
Feature /change: t -> c
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0058: 1544
Feature /codon: ctc -> ccc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P33076; C2TA_HUMAN: 469
Feature /change: L -> P
Feature /domain: NACHT
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0058: 31734
Feature /change: t -> c
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0058: 1544
Feature /codon: ctc -> ccc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P33076; C2TA_HUMAN: 469
Feature /change: L -> P
Feature /domain: NACHT
Symptoms Infections:
Symptoms Bacterial: pneumonia
Symptoms Viral: HSV
Symptoms Liver/biliary tract abnormalities
Symptoms Other clinical features: Recurrent upper respiratory
Symptoms infections from early childhood, chronic pulmonary
Symptoms infections, bronchiectasis, swelling lymph nodes,
Symptoms atrial-septal defect (corrected in surgery in 1994)
Treatment IVIG: constant
Treatment date started: 1990-1995
Treatment No still on IVIG
Treatment Prophylactic medication
Treatment antibiotics: constant
Treatment Other: Chemoprophylaxis with Septrim (1990-1994)
Sex XX
Age 11
Ethnic origin Caucasoid; Greek
Parents Non-consanguineous
Relative CIITAbase; M0003 sister
Relative CIITAbase; M0004 sister
Relative Other affected family members: Yes; phenotype:same
Comment -!-The patient has a mild form of the immunodeficiency
//
ID W688X(1),?; standard; MUTATION; NACHT
Accession M0007
Systematic name Allele 1: g.32391G>A, c.2201G>A, p.W688X
Original code SP
Description Allele 1: point mutation in the exon 11 leading to a
Description premature stop codon in the NACHT domain
Description Allele 2: Not identified
Date 03-Feb-2003 (Rel. 1, Created)
Date 03-Feb-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11862382
RefAuthors Dziembowska, M., Fondaneche, M. C., Vedrenne, J.,
RefAuthors Barbieri, G., Wiszniewski, W., Picard, C., Cant, A. J.,
RefAuthors Steimle, V., Charron, D., Alca-Loridan, C., Fischer, A.,
RefAuthors Lisowska-Grospierre, B.
RefTitle Three novel mutations of the CIITA gene in MHC class II-
RefTitle deficient patients with a severe immunodeficiency.
RefLoc Immunogenetics 53:821-829 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0058: 32391
Feature /change: g -> a
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0058: 2201
Feature /codon: tgg -> tag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P33076; C2TA_HUMAN: 688
Feature /change: W -> X
Feature /domain: NACHT
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
Symptoms Hematological abnormalities:
Symptoms Other: lymphopenia, hypogammaglobulinemia
Treatment Bone marrow transplatation: Yes: Date: DD/MM/YY
Treatment Outcome
Treatment BMT-related problems: death
Status quo Deceased; cause of death: patient died a few weeks after
Status quo BMT as a consequence either of graft-versus-host disease
Status quo or of previously contracted severe viral infections
//
ID F962S(1),F962S(1); standard; MUTATION;
Accession M0006
Systematic name Allele 1 and 2: g.35092T>C, c.3023T>C, p.F962S
Original code Fern
Description Allele 1 and 2: point mutation in the exon 13 leading to
Description an amino acid change
Date 03-Feb-2003 (Rel. 1, Created)
Date 03-Feb-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10501838
RefAuthors Quan, V., Towey, M., Sacks, S., Kelly, A. P.
RefTitle Absence of MHC class II gene expression in a patient with
RefTitle a single amino acid substitution in the class II
RefTitle transactivator protein CIITA.
RefLoc Immunogenetics 49:957-963 (1999)
RefNumber [2]
RefCrossRef PUBMED; 11704716
RefAuthors Villard, J., Masternak, K., Lisowska-Grospierre, B.,
RefAuthors Fischer, A., Reith, W.
RefTitle MHC class II deficiency: a disease of gene regulation.
RefLoc Medicine (Baltimore) 80:405-418 (2001)
RefNumber [3]
RefCrossRef PUBMED; 11037300
RefAuthors Vihinen, M., Arredondo-Vega, F. X., Casanova, J. L.,
RefAuthors Etzioni, A., Giliani, S., Hammarstrom, L., Hershfield, M.
RefAuthors S., Heyworth, P. G., Hsu, A. P., Lahdesmaki, A.,
RefAuthors Lappalainen, I., Notarangelo, L. D., Puck, J. M., Reith,
RefAuthors W., Roos, D., Schumacher, R. F., Schwarz, K., Vezzoni, P.,
RefAuthors Villa, A., Valiaho, J., Smith, C. I.
RefTitle Primary immunodeficiency mutation databases.
RefLoc Adv Genet 43:103-188 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0058: 35092
Feature /change: t -> c
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0058: 3023
Feature /codon: ttt -> tct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P33076; C2TA_HUMAN: 962
Feature /change: F -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0058: 35092
Feature /change: t -> c
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0058: 3023
Feature /codon: ttt -> tct; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P33076; C2TA_HUMAN: 962
Feature /change: F -> S
Sex XY
//
ID #A963-27(1),#N1026-1(1); standard; MUTATION;
Accession M0008
Systematic name Allele 1: g.40423_40503del, c.3027_3107del, p.A963del
Systematic name Allele 2: g.43309_43311delCAT, c.3216_3218delCAT,
Systematic name p.N1026del
Original code RC
Description Allele 1: inframe deletion of the 81 nucleotides leading
Description to skipping of exon 14
Description Allele 2: inframe deletion in the exon 16 leading to an
Description amino acid change
Date 03-Feb-2003 (Rel. 1, Created)
Date 03-Feb-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11862382
RefAuthors Dziembowska, M., Fondaneche, M. C., Vedrenne, J.,
RefAuthors Barbieri, G., Wiszniewski, W., Picard, C., Cant, A. J.,
RefAuthors Steimle, V., Charron, D., Alca-Loridan, C., Fischer, A.,
RefAuthors Lisowska-Grospierre, B.
RefTitle Three novel mutations of the CIITA gene in MHC class II-
RefTitle deficient patients with a severe immunodeficiency.
RefLoc Immunogenetics 53:821-829 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: unknown
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0058: 3027..3107
Feature /change: -gctgggccct gtctcaggcc cccaggcttt ccccaaactg
Feature /change: gtgcggatcc tcacggcctt ttcctccctg cagcatctgg
Feature /change: a
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P33076; C2TA_HUMAN: 963..990
Feature /change: ALGPVSGPQA FPKLVRILTA FSSLQHLD -> A
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0058: 43309..43311
Feature /change: -cat
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0058: 3216..3218
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P33076; C2TA_HUMAN: 1026..1027
Feature /change: NI -> N
Symptoms Hematological abnormalities:
Symptoms Other: lymphopenia, hypogammaglobulinemia
Treatment Bone marrow transplatation: Yes
Status quo Deceased; cause of death: fatal cytomegalovirus infection
//
ID Intron 17(1),Intron 17(1); standard; MUTATION;
Accession M0002
Systematic name Allele 1 and 2: g.47109_47120del, c.3367_3378del,
Systematic name p.M1077_Y1081del
Original code ATU; #S1050-28 Ref[3]
Description Allele 1 and 2: deletion in the intron 17 and exon 17
Description leading to skipping of exon 17 and a deletion
Description of 28 amino acids
Date 31-Jan-2003 (Rel. 1, Created)
Date 31-Jan-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10663561
RefAuthors Peijnenburg, A., Van den Berg, R., Van Eggermond, M. J.,
RefAuthors Sanal, O., Vossen, J. M., Lennon, A. M., Alcaïde-Loridan,
RefAuthors C., Van den Elsen, P. J.
RefTitle Defective MHC class II expression in an MHC class II
RefTitle deficiency patient is caused by a novel deletion of a
RefTitle splice donor site in the MHC class II transactivator gene.
RefLoc Immunogenetics 51:42-49 (2000)
RefNumber [2]
RefCrossRef PUBMED; 11704716
RefAuthors Villard, J., Masternak, K., Lisowska-Grospierre, B.,
RefAuthors Fischer, A., Reith, W.
RefTitle MHC class II deficiency: a disease of gene regulation.
RefLoc Medicine (Baltimore) 80:405-418 (2001)
RefNumber [3]
RefCrossRef PUBMED; 11037300
RefAuthors Vihinen, M., Arredondo-Vega, F. X., Casanova, J. L.,
RefAuthors Etzioni, A., Giliani, S., Hammarstrom, L., Hershfield, M.
RefAuthors S., Heyworth, P. G., Hsu, A. P., Lahdesmaki, A.,
RefAuthors Lappalainen, I., Notarangelo, L. D., Puck, J. M., Reith,
RefAuthors W., Roos, D., Schumacher, R. F., Schwarz, K., Vezzoni, P.,
RefAuthors Villa, A., Valiaho, J., Smith, C. I.
RefTitle Primary immunodeficiency mutation databases.
RefLoc Adv Genet 43:103-188 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0058: 47109..47120
Feature /change: -atggagtgag tg
Feature /genomic_region: intron; 17 exon; 17
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0058: 3288..3371
Feature /change: -cttgtacaat aactgcatct gcgacgtggg agccgagagc
Feature /change: ttggctcgtg tgcttccgga catggtgtcc ctccgggtga
Feature /change: tgga
Feature /note: skipping of exon 17
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P33076; C2TA_HUMAN: 1050..1078
Feature /change: SLYNNCICDV GAESLARVLP DMVSLRVMD -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0058: 47109..47120
Feature /change: -atggagtgag tg
Feature /genomic_region: intron; 17 exon; 17
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0058: 3288..3371
Feature /change: -cttgtacaat aactgcatct gcgacgtggg agccgagagc
Feature /change: ttggctcgtg tgcttccgga catggtgtcc ctccgggtga
Feature /change: tgga
Feature /note: skipping of exon 17
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P33076; C2TA_HUMAN: 1050..1078
Feature /change: SLYNNCICDV GAESLARVLP DMVSLRVMD -> S
//
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