Database ORAI1base
Version 1.0
File orai1pub.html
Date 16-Jun-2011
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/ORAI1base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF147.html
Gene ORAI1
Disease Severe combined immunodeficiency
Sequence IDRefSeq: D0114; IDRefSeq: C0114; UniProt: Q96D31
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID @A88X112(1),@A88X112(1); standard; MUTATION; TM,TM
Accession T0003
Systematic name Allele 1 and 2: g.1133_1134insA, c.261_262insA,
Systematic name r.261_262insa, p.Ala88fsX25
Original code P4
Description Allele 1 and 2: A frame shift insertion mutation in the
Description exon 1 leading to a premature stop codon in the TM domain
Date 26-Jul-2010 (Rel. 1, Created)
Date 26-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20004786
RefAuthors McCarl, C. A., Picard, C., Khalil, S., Kawasaki, T.,
RefAuthors Rother, J., Papolos, A., Kutok, J., Hivroz, C., Ledeist,
RefAuthors F., Plogmann, K., Ehl, S., Notheis, G., Albert, M. H.,
RefAuthors Belohradsky, B. H., Kirschner, J., Rao, A., Fischer, A.,
RefAuthors Feske, S.
RefTitle ORAI1 deficiency and lack of store-operated ca2+ entry
RefTitle cause immunodeficiency, myopathy, and ectodermal
RefTitle dysplasia.
RefLoc J Allergy Clin Immunol:1311-1318.e7 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0114: 1134
Feature /change: +a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0114; GI:38016942; ORAI1C: 435
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SwissProt: CRCM1_HUMAN: 88
Feature /change: A -> SLQPDLGSAL RLRHGGNGGG AAGRX
Feature /domain: TM
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0114: 1134
Feature /change: +a
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0114; GI:38016942; ORAI1C: 435
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SwissProt: CRCM1_HUMAN: 88
Feature /change: A -> SLQPDLGSAL RLRHGGNGGG AAGRX
Feature /domain: TM
Symptoms Facial dysmorphy; Club foot; Hypocalcemia; Failure to
Symptoms thrive; Chronic diarrhea; Pneumonia; Candidiasis; Otitis;
Symptoms Pyelonephritis;
Sex XY
Ethnic origin France
Parents Consanguineous
Comment Patient died of fever, seizures and progressive
Comment encephalopathy at age 11 months.
//
ID R91W(1a),R91W(1a); standard; MUTATION; TM,TM
Accession T0001
Systematic name Allele 1 and 2: g.1143C>T, c.271C>T, r.271c>u, p.Arg91Trp
Original code 8 Ref.[1]; P1 Ref.[2]
Description Allele 1 and 2: A point mutation in the exon 1 leading to
Description an amino acid change in the TM domain
Date 10-Aug-2006 (Rel. 1, Created)
Date 26-Jul-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16582901
RefAuthors Feske, S., Gwack, Y., Prakriya, M., Srikanth, S., Puppel,
RefAuthors S. H., Tanasa, B., Hogan, P. G., Lewis, R. S., Daly, M.,
RefAuthors Rao, A.
RefTitle A mutation in orai1 causes immune deficiency by
RefTitle abrogating CRAC channel function.
RefLoc Nature:179-185 (2006)
RefNumber [2]
RefCrossRef PUBMED; 20004786
RefAuthors McCarl, C. A., Picard, C., Khalil, S., Kawasaki, T.,
RefAuthors Rother, J., Papolos, A., Kutok, J., Hivroz, C., Ledeist,
RefAuthors F., Plogmann, K., Ehl, S., Notheis, G., Albert, M. H.,
RefAuthors Belohradsky, B. H., Kirschner, J., Rao, A., Fischer, A.,
RefAuthors Feske, S.
RefTitle ORAI1 deficiency and lack of store-operated ca2+ entry
RefTitle cause immunodeficiency, myopathy, and ectodermal
RefTitle dysplasia.
RefLoc J Allergy Clin Immunol:1311-1318.e7 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0114: 1143
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0116: 444
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q96D31; CRCM1_HUMAN: 91
Feature /change: R -> W
Feature /domain: TM
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0114: 1143
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0116: 444
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q96D31; CRCM1_HUMAN: 91
Feature /change: R -> W
Feature /domain: TM
Symptoms Recurrent infections; Rotavirus enteritis; Pneumonia;
Symptoms Meningitis; Failure to thrive; Muscular hypotonia;
Sex XY
Ethnic origin Turkey
Parents Consanguineous
Relative ORAI1base; T0002 brother
Comment Patient died of pneumonia and gastrointestinal sepsis at
Comment age 11 months.
//
ID R91W(1b),R91W(1b); standard; MUTATION; TM,TM
Accession T0002
Systematic name Allele 1 and 2: g.1143C>T, c.271C>T, r.271c>u, p.Arg91Trp
Original code 11 Ref.[1]; P2 Ref.[2]
Description Allele 1 and 2: A point mutation in the exon 1 leading to
Description an amino acid change in the TM domain
Date 10-Aug-2006 (Rel. 1, Created)
Date 26-Jul-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16582901
RefAuthors Feske, S., Gwack, Y., Prakriya, M., Srikanth, S., Puppel,
RefAuthors S. H., Tanasa, B., Hogan, P. G., Lewis, R. S., Daly, M.,
RefAuthors Rao, A.
RefTitle A mutation in orai1 causes immune deficiency by
RefTitle abrogating CRAC channel function.
RefLoc Nature:179-185 (2006)
RefNumber [2]
RefCrossRef PUBMED; 20004786
RefAuthors McCarl, C. A., Picard, C., Khalil, S., Kawasaki, T.,
RefAuthors Rother, J., Papolos, A., Kutok, J., Hivroz, C., Ledeist,
RefAuthors F., Plogmann, K., Ehl, S., Notheis, G., Albert, M. H.,
RefAuthors Belohradsky, B. H., Kirschner, J., Rao, A., Fischer, A.,
RefAuthors Feske, S.
RefTitle ORAI1 deficiency and lack of store-operated ca2+ entry
RefTitle cause immunodeficiency, myopathy, and ectodermal
RefTitle dysplasia.
RefLoc J Allergy Clin Immunol:1311-1318.e7 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0114: 1143
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0116: 444
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q96D31; CRCM1_HUMAN: 91
Feature /change: R -> W
Feature /domain: TM
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0114: 1143
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0116: 444
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q96D31; CRCM1_HUMAN: 91
Feature /change: R -> W
Feature /domain: TM
Symptoms Failure to thrive; Amelogenesis; Anhydrosis; Congenital
Symptoms muscular hypotonia;
Sex XY
Ethnic origin Turkey
Parents Consanguineous
Relative ORAI1base; T0001 brother
//
ID A103E(1),L194P(1); standard; MUTATION; TM,TM
Accession T0004
Systematic name Allele 1: g.15176C>A, c.308C>A, r.308c>a, p.Ala103Glu
Systematic name Allele 2: g.15449T>C, c.581T>C, r.581u>c, p.Leu194Pro
Original code P6
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change in the TM domain
Description Allele 2: A point mutation in the exon 2 leading to an
Description amino acid change in the TM domain
Date 26-Jul-2010 (Rel. 1, Created)
Date 26-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20004786
RefAuthors McCarl, C. A., Picard, C., Khalil, S., Kawasaki, T.,
RefAuthors Rother, J., Papolos, A., Kutok, J., Hivroz, C., Ledeist,
RefAuthors F., Plogmann, K., Ehl, S., Notheis, G., Albert, M. H.,
RefAuthors Belohradsky, B. H., Kirschner, J., Rao, A., Fischer, A.,
RefAuthors Feske, S.
RefTitle ORAI1 deficiency and lack of store-operated ca2+ entry
RefTitle cause immunodeficiency, myopathy, and ectodermal
RefTitle dysplasia.
RefLoc J Allergy Clin Immunol:1311-1318.e7 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0114: 15176
Feature /change: c -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0114; GI:38016942; ORAI1C: 481
Feature /codon: gca -> gaa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SwissProt: CRCM1_HUMAN: 103
Feature /change: A -> E
Feature /domain: TM
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0114: 15449
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0114; GI:38016942; ORAI1C: 754
Feature /codon: ctc -> ccc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SwissProt: CRCM1_HUMAN: 194
Feature /change: L -> P
Feature /domain: TM
Symptoms Failure to thrive; Amelogenesis; Anhydrosis; Congenital
Symptoms muscular hypotonia; Eczema;
Sex XY
Ethnic origin Germany
Parents Non-consanguineous
Comment Patient's brother died at age 8 months.
//
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