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Gene ID: CYP21A2
Navigation:Non-Synonymous SNPsSynonymous SNPsIntronic SNPsUntranslated mRNA SNPs
Display: All SwissProt Only dbSNP Only
Gene InfoAnnotation Info
Description:cytochrome P450, family 21, subfamily A,Swiss-Prot Source:CP21A_HUMAN
Chromosome:6NCBI mRNA Source:NM_000500
Gene length: 3338NCBI Protein Source:NP_000491
Exons: 10Gene Symbol: CYP21A2
Number of Transcript Variants 0
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Mutation ListBack to top
Source ID AA Position
(help?)		 WT -> MT
(help?)		 Sequence Phenotype Structure PubMed SIFT Score
(help?)
SWISS:VAR_0183639L        LLSwiss-Protin allele CYP21A2*2None1406709 2303461
Not scored
SWISS:VAR_02605915A        TSwiss-Protin CAH; salt wasting form; no significant difference in activity compared with the wild-typeNone0.5
SWISS:VAR_00128130P        LSwiss-Protin CAH; non-classic form; 50% activity; 10% of non-classic CAH Texan patientsNone2072928 1644925
10408778 10408786
12788866 		1.00
SWISS:VAR_02606030P        QSwiss-Protin CAH; does not affect membrane binding; enzyme function abolishedNone 0.03
DBSNP:rs937825131P        LNCBIIn dbsnp.None Not scored
SWISS:VAR_01836462H        LSwiss-Protin CAHNone12788866 0.04
DBSNP:rs937825263H        LNCBIIn dbsnp.None Not scored
SWISS:VAR_00792364G        ESwiss-Protin CAH; no activityNone10408778 0.00
SWISS:VAR_02606190G        VSwiss-Protin CAHNone 0.00
SWISS:VAR_00128298K        RSwiss-ProtNone0.08
SWISS:VAR_001283102K        RSwiss-Protin allele CYP21A2*3None1406709 0.88
DBSNP:rs6474103R        KNCBIIn dbsnp.None Not scored
SWISS:VAR_001284105P        LSwiss-Protin CAHNone1496017 8989258
0.08
SWISS:VAR_026062124R        HSwiss-Protin CAHNone0.44
SWISS:VAR_001285169C        YSwiss-Protin CAHNone10094562 0.01
SWISS:VAR_001286172I        NSwiss-Protin CAH; simple virilizing form; 1-2% activityNone3257825 2303461
1937474 1644925
7749410 10408778
10408786 10051010
12788866 12915679
0.00
DBSNP:rs6475172I        NNCBIIn dbsnp.None Not scored
SWISS:VAR_026063178G        ASwiss-Protin CAHNone0.11
SWISS:VAR_001287183D        ESwiss-Protin allele CYP21A2*4None0.64
DBSNP:rs1040310183D        ENCBIIn dbsnp.None Not scored
SWISS:VAR_026064211V        LSwiss-Protin CAH; non-classic form; pathogenicity uncertainNone0.2
SWISS:VAR_001288236I        NSwiss-Protin CAH; salt wasting formNone1644925 7749410
10408778 10408786
0.00
SWISS:VAR_001289237V        ESwiss-Protin CAH; salt wasting formNone1644925 10408786
0.00
DBSNP:rs12530380237V        ENCBIIn dbsnp.None Not scored
SWISS:VAR_001290239M        KSwiss-Protin CAH; salt wasting formNone1644925 10408786
1.00
DBSNP:rs6476239M        KNCBIIn dbsnp.None Not scored
SWISS:VAR_026065261L        PSwiss-Protin CAHNone 0.00
DBSNP:rs6472268S        TNCBIIn dbsnp.None Not scored
SWISS:VAR_026066281V        GSwiss-Protin CAH; salt wasting formNone 0.00
DBSNP:rs6471281V        LNCBIIn dbsnp.None Not scored
SWISS:VAR_026067283M        LSwiss-Protin CAHNone0.12
SWISS:VAR_026068291G        CSwiss-Protin CAHNone 0.01
SWISS:VAR_018365291G        RSwiss-Protin CAHNone12915679 0.00
SWISS:VAR_001293291G        SSwiss-Protin CAH; salt wasting form; less then 1% activityNone1496017 9497336
10408778 		0.03
SWISS:VAR_026069300L        FSwiss-Protin CAH; salt wasting formNone0.1
SWISS:VAR_018366301S        YSwiss-Protin CAHNone12915679 0.05
SWISS:VAR_026070304V        MSwiss-Protin hyperandrogenism; due to 21- hydroxylase deficiency; non-classic type; residual activity of 46% for conversion of 17-hydroxyprogesterone and 26% for conversion of progesterone compared with the normal enzymeNone 0.01
SWISS:VAR_026071317L        MSwiss-Protin CAHNone 0.02
DBSNP:rs7755898318Q        *NCBIIn dbsnp.None Not scored
SWISS:VAR_001294339R        HSwiss-Protin CAH; non-classic form; 50% activityNone1406709 0.01
SWISS:VAR_018367341R        PSwiss-Protin CAHNone12788866 12915679
0.15
SWISS:VAR_001295341R        WSwiss-Protin CAH; non-classic form; mildNone0.1
SWISS:VAR_026072354R        CSwiss-Protin CAH; salt wasting formNone 0.00
SWISS:VAR_026073354R        HSwiss-Protin CAHNone 0.00
SWISS:VAR_001296356R        PSwiss-Protin CAH; salt wasting form; 0.15% activityNone9187661 0.01
SWISS:VAR_001297356R        QSwiss-Protin CAH; simple virilizing form; mild; 0.65% activityNone9187661 10094562
0.08
SWISS:VAR_001298356R        WSwiss-Protin CAH; salt wasting formNone 0.00
DBSNP:rs7769409356R        WNCBIIn dbsnp.None Not scored
SWISS:VAR_007924362A        VSwiss-Protin CAH; no activityNone10408778 0.23
SWISS:VAR_026074363L        WSwiss-Protin CAHNone 0.00
SWISS:VAR_026075365H        YSwiss-Protin CAHNone 0.00
SWISS:VAR_026076375G        SSwiss-Protin hyperandrogenism; due to 21- hydroxylase deficiency; almost completely abolished enzyme activityNone0.15
SWISS:VAR_001299380E        DSwiss-Protin CAH; salt wasting formNone9067760 0.07
SWISS:VAR_026077408R        CSwiss-Protin CAH; should lead to complete impairment of enzymatic activityNone 0.00
SWISS:VAR_026078424G        SSwiss-Protin CAHNone 0.00
SWISS:VAR_026079426R        HSwiss-Protin CAH; exhibit only low enzyme activity toward 17-hydroxyprogesteroneNone 0.00
SWISS:VAR_026080435R        CSwiss-Protin CAHNone 0.00
DBSNP:rs6445453P        SNCBIIn dbsnp.None Not scored
SWISS:VAR_026081479R        LSwiss-Protin CAHNone 0.04
SWISS:VAR_026082482P        SSwiss-Protin CAH; rediced enzyme activity to 70% of normalNone0.08
SWISS:VAR_001301483R        PSwiss-Protin CAH; moderate; 1-2% of activityNone8478006 7749410
9497336 12788866
0.00
SWISS:VAR_018368483R        QSwiss-Protin CAHNone12915679 0.00
SWISS:VAR_026083483R        WSwiss-Protin CAH; salt wasting formNone 0.00
DBSNP:rs6473493S        NNCBIIn dbsnp.None Not scored
Synonymous MutationsBack to top
Source ID AA Position
(help?)		 WT -> MT
(help?)		 Sequence Phenotype Structure PubMed
DBSNP:rs646839L        LNCBIIn dbsnpNone
DBSNP:rs646445P        PNCBIIn dbsnpNone
DBSNP:rs6455105P        PNCBIIn dbsnpNone
DBSNP:rs6456107L        LNCBIIn dbsnpNone
DBSNP:rs6457226L        LNCBIIn dbsnpNone
DBSNP:rs10947229234D        DNCBIIn dbsnpNone
DBSNP:rs6477248L        LNCBIIn dbsnpNone
DBSNP:rs11970671273S        SNCBIIn dbsnpNone
DBSNP:rs6469374S        SNCBIIn dbsnpNone
DBSNP:rs6446490P        PNCBIIn dbsnpNone
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