No paralogue variants have been mapped to residue 693 for SCN5A.
SCN5A | CPPC-------------------WNR-LAQ>R<YLIWECCPLWMSIKQGVKLVVMDPFTDLTI | 723 |
SCN1A | CPPC-------------------WYK-FSN>I<FLIWDCSPYWLKVKHVVNLVVMDPFVDLAI | 774 |
SCN2A | CPPC-------------------WYK-FAN>M<CLIWDCCKPWLKVKHLVNLVVMDPFVDLAI | 765 |
SCN3A | CPPC-------------------WYR-FAN>V<FLIWDCCDAWLKVKHLVNLIVMDPFVDLAI | 766 |
SCN4A | CPPW-------------------WYK-CAH>K<VLIWNCCAPWLKFKNIIHLIVMDPFVDLGI | 584 |
SCN7A | CPLY-------------------WYK-FAK>T<FLIWNCSPCWLKLKEFVHRIIMAPFTDLFL | 511 |
SCN8A | CPPC-------------------WYK-FAN>T<FLIWECHPYWIKLKEIVNLIVMDPFVDLAI | 759 |
SCN9A | CPPW-------------------WYR-FAH>K<FLIWNCSPYWIKFKKCIYFIVMDPFVDLAI | 739 |
SCN10A | CPPC-------------------LTS-LSQ>K<YLIWDCCPMWVKLKTILFGLVTDPFAELTI | 671 |
SCN11A | CLPC-------------------GEN-LAS>K<YLVWNCCPQWLCVKKVLRTVMTDPFTELAI | 583 |
CACNA1A | FARA-------------------SIK-SAK>L<ENSTFFHKKERRMRFYIRRMVKTQAFYWTV | 493 |
CACNA1B | FARA-------------------SLK-SGK>T<ESSSYFRRKEKMFRFFIRRMVKAQSFYWVV | 489 |
CACNA1C | -ARL-------------------AHR-ISK>S<KFSRYWRRWNRFCRRKCRAAVKSNVFYWLV | 530 |
CACNA1D | CRRW-------------------GQA-ISK>S<KLSRRWRRWNRFNRRRCRAAVKSVTFYWLV | 549 |
CACNA1E | LARA-------------------SIK-SAK>V<DGVSYFRHKERLLRISIRHMVKSQVFYWIV | 482 |
CACNA1F | CTRC-------------------LNK-IMK>T<RVCRRLRRANRVLRARCRRAVKSNACYWAV | 535 |
CACNA1G | SRRQ---R------------------SLGP>D<AEPSSVLAFWRLICDTFRKIVDSKYFGRGI | 749 |
CACNA1H | TRPPRATDTPGPG---PGSPQRRAQQRAAP>G<E-PGWMGRLWVTFSGKLRRIVDSKYFSRGI | 799 |
CACNA1I | GARS---SEDGASSELG--KEEEEEE-QAD>G<A-VWLCGDVWRETRAKLRGIVDSKYFNRGI | 646 |
CACNA1S | -----------------------LNK-I-->I<QFIRHWRQWNRIFRWKCHDIVKSKVFYWLV | 438 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R693H | c.2078G>A | Putative Benign | rs373087176 | SIFT: tolerated Polyphen: benign | |
p.R693C | c.2077C>T | Putative Benign | rs375306544 | SIFT: tolerated Polyphen: benign |