No paralogue variants have been mapped to residue 730 for SCN5A.
SCN5A | CPLWMSIKQGVKLVVMDPFTDLTITMCIVL>N<TLFMALEHYNMTSEFEEMLQVGNLVFTGIF | 760 |
SCN1A | SPYWLKVKHVVNLVVMDPFVDLAITICIVL>N<TLFMAMEHYPMTDHFNNVLTVGNLVFTGIF | 811 |
SCN2A | CKPWLKVKHLVNLVVMDPFVDLAITICIVL>N<TLFMAMEHYPMTEQFSSVLSVGNLVFTGIF | 802 |
SCN3A | CDAWLKVKHLVNLIVMDPFVDLAITICIVL>N<TLFMAMEHYPMTEQFSSVLTVGNLVFTGIF | 803 |
SCN4A | CAPWLKFKNIIHLIVMDPFVDLGITICIVL>N<TLFMAMEHYPMTEHFDNVLTVGNLVFTGIF | 621 |
SCN7A | SPCWLKLKEFVHRIIMAPFTDLFLIICIIL>N<VCFLTLEHYPMSKQTNTLLNIGNLVFIGIF | 548 |
SCN8A | HPYWIKLKEIVNLIVMDPFVDLAITICIVL>N<TLFMAMEHHPMTPQFEHVLAVGNLVFTGIF | 796 |
SCN9A | SPYWIKFKKCIYFIVMDPFVDLAITICIVL>N<TLFMAMEHHPMTEEFKNVLAIGNLVFTGIF | 776 |
SCN10A | CPMWVKLKTILFGLVTDPFAELTITLCIVV>N<TIFMAMEHHGMSPTFEAMLQIGNIVFTIFF | 708 |
SCN11A | CPQWLCVKKVLRTVMTDPFTELAITICIII>N<TVFLAMEHHKMEASFEKMLNIGNLVFTSIF | 620 |
CACNA1A | HKKERRMRFYIRRMVKTQAFYWTVLSLVAL>N<TLCVAIVHYNQPEWLSDFLYYAEFIFLGLF | 530 |
CACNA1B | RRKEKMFRFFIRRMVKAQSFYWVVLCVVAL>N<TLCVAMVHYNQPRRLTTTLYFAEFVFLGLF | 526 |
CACNA1C | RRWNRFCRRKCRAAVKSNVFYWLVIFLVFL>N<TLTIASEHYNQPNWLTEVQDTANKALLALF | 567 |
CACNA1D | RRWNRFNRRRCRAAVKSVTFYWLVIVLVFL>N<TLTISSEHYNQPDWLTQIQDIANKVLLALF | 586 |
CACNA1E | RHKERLLRISIRHMVKSQVFYWIVLSLVAL>N<TACVAIVHHNQPQWLTHLLYYAEFLFLGLF | 519 |
CACNA1F | RRANRVLRARCRRAVKSNACYWAVLLLVFL>N<TLTIASEHHGQPVWLTQIQEYANKVLLCLF | 572 |
CACNA1G | LAFWRLICDTFRKIVDSKYFGRGIMIAILV>N<TLSMGIEYHEQPEELTNALEISNIVFTSLF | 786 |
CACNA1H | GRLWVTFSGKLRRIVDSKYFSRGIMMAILV>N<TLSMGVEYHEQPEELTNALEISNIVFTSMF | 836 |
CACNA1I | GDVWRETRAKLRGIVDSKYFNRGIMMAILV>N<TVSMGIEHHEQPEELTNILEICNVVFTSMF | 683 |
CACNA1S | RQWNRIFRWKCHDIVKSKVFYWLVILIVAL>N<TLSIASEHHNQPLWLTRLQDIANRVLLSLF | 475 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N730K | c.2190C>A | Putative Benign | SIFT: Polyphen: |