No paralogue variants have been mapped to residue 971 for SCN5A.
SCN5A | ADNLTAP-DEDREM-NNLQL-ALARIQRGL>R<FVK--------------------------- | 974 |
SCN1A | ADNLAAT-DDDNEM-NNLQI-AVDRMHKGV>A<YVK--------------------------- | 1027 |
SCN2A | SDNLAAT-DDDNEM-NNLQI-AVGRMQKGI>D<FVK--------------------------- | 1018 |
SCN3A | SDNLAAT-DDDNEM-NNLQI-AVGRMQKGI>D<YVK--------------------------- | 1019 |
SCN4A | ADSLAAS-DEDGEM-NNLQI-AIGRIKLGI>G<FAK--------------------------- | 837 |
SCN7A | SCKDVTA-EENNEA-KNLQL-AVARIKKGI>N<YVL--------------------------- | 763 |
SCN8A | ADNLAAT-DDDGEM-NNLQI-SVIRIKKGV>A<WTK--------------------------- | 1012 |
SCN9A | SDNLTAI-EEDPDA-NNLQI-AVTRIKKGI>N<YVK--------------------------- | 992 |
SCN10A | ADNLTAP-EDDGEV-NNLQV-ALARIQV-->-<FGH--------------------------- | 922 |
SCN11A | NEERNGNLEGEARK-TKVQL-ALDRFRRAF>C<FVR--------------------------- | 847 |
CACNA1A | AQELTKDEQEEEEA-ANQKL-ALQKAKEVA>E<VSPLSAANMS--------------IAVKEQ | 764 |
CACNA1B | AQELTKDEEEMEEA-ANQKL-ALQKAKEVA>E<VSPMSAANIS--------------IAA--R | 758 |
CACNA1C | AESLTSAQKEEEEE-KERKK-LART---AS>-<------------------------------ | 783 |
CACNA1D | AESLNTAQKEEAEE-KERKK-IARK---ES>-<------------------------------ | 802 |
CACNA1E | AQELTKDEQEEEEA-FNQKH-ALQKAKEVS>P<MSAPNMPSIERDRRRRHHMSMWEPRSSHLR | 767 |
CACNA1F | GDA-GTAKDKGGEK-SNEKDLPQEN---EG>-<------------------------------ | 788 |
CACNA1G | AEEISKREDASGQL-SCIQL-PVDSQGGDA>N<KS------------ESE------------- | 1002 |
CACNA1H | AEGDANRSDTDEDKTSVHFEEDFHKL---->-<------------------------------ | 1045 |
CACNA1I | EGDAN-RSYSDEDQSSSNIE-EFDKLQE-->-<------------------------------ | 893 |
CACNA1S | AESLTSAQKAKAEE-KKRRK-MSKGLPDKS>-<------------------------------ | 694 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R971C | c.2911C>T | Inherited Arrhythmia | LQTS | rs61737825 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||
p.R971G | c.2911C>G | Putative Benign | rs61737825 | SIFT: tolerated Polyphen: benign | |
p.R971S | c.2911C>A | Putative Benign | rs61737825 | SIFT: tolerated Polyphen: benign | |
p.R971H | c.2912G>A | Putative Benign | SIFT: Polyphen: |