No paralogue variants have been mapped to residue 616 for SCN5A.
SCN5A | ----DCNGVVSLLG-AGD----PEAT-SPG>S<HLLRP-------------VMLEHPP--DTT | 631 |
SCN1A | HSTVDCNGVVSLVG-G-P----SVPT-SPV>G<QLLPE-------------VIIDKPATDDNG | 682 |
SCN2A | HSAVDCNGVVSLVG-G-P----STLT-SA->G<QLLPE------------------------G | 673 |
SCN3A | HSTVDCNGVVSLVG-G-P----SALT-SPT>G<QLPPE------------------------G | 674 |
SCN4A | ----DCNGSLDTSQ-G-------------->-<------------------------------ | 515 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | NSTVDCNGVVSLIG-G-P----GSHI---G>G<RLLPE------------------------A | 667 |
SCN9A | HSAVDCNGVVSLVD-G-R----SALM-LPN>G<QLLPE-------------G----------- | 648 |
SCN10A | -----------SRH-G-E----DEHQPPPT>-<SELAP----------------------GAV | 582 |
SCN11A | ----DCQKKPQLLE-Q-------------->-<---T-------------------------- | 498 |
CACNA1A | ------------------------------>-<------------------------------ | |
CACNA1B | ------------------------------>-<------------------------------ | |
CACNA1C | ------------------------------>-<------------------------------ | |
CACNA1D | ------------------------------>-<------------------------------ | |
CACNA1E | ------------------------------>-<------------------------------ | |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | VEVAASSGPPTLTSL-NI----PPGPY-SS>M<HKLLETQSTGACQS-----SC--KISSPCL | 655 |
CACNA1H | GPKGKWAGGPPGTGGHGPLSLNSPDPY-EK>I<PHVVGEHGLGQAPGHLSGLSV--PCPLPSP | 688 |
CACNA1I | ----TLAS---------------------->-<------------------------------ | 548 |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S616N | c.1847G>A | Putative Benign | SIFT: Polyphen: |