No paralogue variants have been mapped to residue 979 for SCN5A.
| SCN5A | --------------------------RTTW>D<FCC-----------GLLRQ-RPQKPAALA- | 996 |
| SCN1A | --------------------------RKIY>E<FIQ-----------QSFIR-KQKILDEIK- | 1049 |
| SCN2A | --------------------------RKIR>E<FIQ-----------KAFVR-KQKALDEIK- | 1040 |
| SCN3A | --------------------------NKMR>E<CFQ-----------KAFFR-KPKVI-EIH- | 1040 |
| SCN4A | --------------------------AFLL>G<LLH-----------GKILS-PKDIMLSLG- | 859 |
| SCN7A | --------------------------LKIL>C<KTQ-----------NVP-------KDTMD- | 779 |
| SCN8A | --------------------------LKVH>A<FMQ-----------AHFKQ-R--EADEVK- | 1032 |
| SCN9A | --------------------------QTLR>E<FIL-----------KAFSK-KPKISREIR- | 1014 |
| SCN10A | -----------------------RTKQALC>S<FFS-----------RSCPFPQPKAEPELVV | 949 |
| SCN11A | --------------------------HTLE>H<FCH-----------KWCRK-Q-NLPQQ--- | 866 |
| CACNA1A | -------------IAVKEQQKNQKPAKSVW>E<QRTSEM--RKQNLLASREA-L-------Y- | 795 |
| CACNA1B | -------------IAA--RQQNSAKARSVW>E<QRASQL--RLQNLRASCEA-L-------Y- | 789 |
| CACNA1C | ---------------------P-------->-<------------------------------ | 784 |
| CACNA1D | ---------------------L-------->-<------------------------------ | 803 |
| CACNA1E | DRRRRHHMSMWEPRSSHLRERRRRHHMSVW>E<QRTSQL--RKHMQMSSQEA-L-------N- | 798 |
| CACNA1F | ---------------------L-------->-<------------------------------ | 789 |
| CACNA1G | ---ESE---------------PDFFSPSLD>G<DGDRKKCLALVSLGEHPEL-R-------K- | 1033 |
| CACNA1H | ---------------------------REL>Q<TTELKMCSLAVTPNGHLEG-R-------G- | 1070 |
| CACNA1I | ---------------------------GLD>S<SGDPKLCPIPMTPNGHLDP-S-------L- | 918 |
| CACNA1S | ---------------------E-------->-<------------------------------ | 695 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D979H | c.2935G>C | Putative Benign | SIFT: Polyphen: |