No paralogue variants have been mapped to residue 724 for SCN5A.
SCN5A | YLIWECCPLWMSIKQGVKLVVMDPFTDLTI>T<MCIVLNTLFMALEHYNMTSEFEEMLQVGNL | 754 |
SCN1A | FLIWDCSPYWLKVKHVVNLVVMDPFVDLAI>T<ICIVLNTLFMAMEHYPMTDHFNNVLTVGNL | 805 |
SCN2A | CLIWDCCKPWLKVKHLVNLVVMDPFVDLAI>T<ICIVLNTLFMAMEHYPMTEQFSSVLSVGNL | 796 |
SCN3A | FLIWDCCDAWLKVKHLVNLIVMDPFVDLAI>T<ICIVLNTLFMAMEHYPMTEQFSSVLTVGNL | 797 |
SCN4A | VLIWNCCAPWLKFKNIIHLIVMDPFVDLGI>T<ICIVLNTLFMAMEHYPMTEHFDNVLTVGNL | 615 |
SCN7A | FLIWNCSPCWLKLKEFVHRIIMAPFTDLFL>I<ICIILNVCFLTLEHYPMSKQTNTLLNIGNL | 542 |
SCN8A | FLIWECHPYWIKLKEIVNLIVMDPFVDLAI>T<ICIVLNTLFMAMEHHPMTPQFEHVLAVGNL | 790 |
SCN9A | FLIWNCSPYWIKFKKCIYFIVMDPFVDLAI>T<ICIVLNTLFMAMEHHPMTEEFKNVLAIGNL | 770 |
SCN10A | YLIWDCCPMWVKLKTILFGLVTDPFAELTI>T<LCIVVNTIFMAMEHHGMSPTFEAMLQIGNI | 702 |
SCN11A | YLVWNCCPQWLCVKKVLRTVMTDPFTELAI>T<ICIIINTVFLAMEHHKMEASFEKMLNIGNL | 614 |
CACNA1A | ENSTFFHKKERRMRFYIRRMVKTQAFYWTV>L<SLVALNTLCVAIVHYNQPEWLSDFLYYAEF | 524 |
CACNA1B | ESSSYFRRKEKMFRFFIRRMVKAQSFYWVV>L<CVVALNTLCVAMVHYNQPRRLTTTLYFAEF | 520 |
CACNA1C | KFSRYWRRWNRFCRRKCRAAVKSNVFYWLV>I<FLVFLNTLTIASEHYNQPNWLTEVQDTANK | 561 |
CACNA1D | KLSRRWRRWNRFNRRRCRAAVKSVTFYWLV>I<VLVFLNTLTISSEHYNQPDWLTQIQDIANK | 580 |
CACNA1E | DGVSYFRHKERLLRISIRHMVKSQVFYWIV>L<SLVALNTACVAIVHHNQPQWLTHLLYYAEF | 513 |
CACNA1F | RVCRRLRRANRVLRARCRRAVKSNACYWAV>L<LLVFLNTLTIASEHHGQPVWLTQIQEYANK | 566 |
CACNA1G | AEPSSVLAFWRLICDTFRKIVDSKYFGRGI>M<IAILVNTLSMGIEYHEQPEELTNALEISNI | 780 |
CACNA1H | E-PGWMGRLWVTFSGKLRRIVDSKYFSRGI>M<MAILVNTLSMGVEYHEQPEELTNALEISNI | 830 |
CACNA1I | A-VWLCGDVWRETRAKLRGIVDSKYFNRGI>M<MAILVNTVSMGIEHHEQPEELTNILEICNV | 677 |
CACNA1S | QFIRHWRQWNRIFRWKCHDIVKSKVFYWLV>I<LIVALNTLSIASEHHNQPLWLTRLQDIANR | 469 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T724I | c.2171C>T | Putative Benign | SIFT: Polyphen: |