No paralogue variants have been mapped to residue 1077 for SCN5A.
SCN5A | ---EENSLGTEEE-------------SSKQ>Q<ESQPVS------------------------ | 1083 |
SCN1A | ---DFSSESDLEE-------------SK-->-<E----------------------------- | 1143 |
SCN2A | ---EFSSESDMEE-------------SK-->-<E----------------------------- | 1133 |
SCN3A | ---EFSSESELEE-------------SK-->-<E----------------------------- | 1131 |
SCN4A | ---ETDTFSEPED-------------SKKP>P<Q----------------------------- | 955 |
SCN7A | ---EIQSKSGDGG-------------SK-->-<E----------------------------- | 864 |
SCN8A | ---DVSSESDPEG-------------SK-->-<D----------------------------- | 1124 |
SCN9A | ---ELSSDSDSEY-------------SK-->-<V----------------------------- | 1106 |
SCN10A | ---TWKDESVPQV-------------PA-->-<E----------------------------- | 1076 |
SCN11A | ---NAQRITQPEP-------------EQQA>Y<EL---------------------------- | 949 |
CACNA1A | ------------------RHGAPATYEGDA>R<REDKERRHRRRKENQGSGVPVSGPNLSTTR | 1049 |
CACNA1B | ------------------RARHKAQPAHEA>V<EKETT------------------------- | 998 |
CACNA1C | ----TGEEDEEEP----------------->-<------------------------------ | 851 |
CACNA1D | VGEEEEEEEEDEP----------------->-<------------------------------ | 857 |
CACNA1E | ----VLPHPELEVGKHVVLTEQEPEGSSEQ>A<LLGNVQLD---------------------- | 1041 |
CACNA1F | EEEEEEEEEEEEE----------------->-<------------------------------ | 822 |
CACNA1G | ----DGDDADDEG----------------->-<------------------------------ | 1228 |
CACNA1H | ----DAAELDDDS----------------->-<------------------------------ | 1246 |
CACNA1I | ----DRGEDEEEI----------------->-<------------------------------ | 1122 |
CACNA1S | ----PGDDEEDEP----------------->-<------------------------------ | 750 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q1077K | c.3229C>A | Putative Benign | SIFT: Polyphen: |