No paralogue variants have been mapped to residue 805 for SCN5A.
SCN5A | GWNIFDSIIVILSLMELGLSRMS-----NL>S<VLRSFRLLRVFKLAKSWPTLNTLIKIIGNS | 835 |
SCN1A | GWNIFDGFIVTLSLVELGLANVE-----GL>S<VLRSFRLLRVFKLAKSWPTLNMLIKIIGNS | 886 |
SCN2A | GWNIFDGFIVSLSLMELGLANVE-----GL>S<VLRSFRLLRVFKLAKSWPTLNMLIKIIGNS | 877 |
SCN3A | GWNIFDGIIVSLSLMELGLSNVE-----GL>S<VLRSFRLLRVFKLAKSWPTLNMLIKIIGNS | 878 |
SCN4A | GWNIFDSIIVTLSLVELGLANVQ-----GL>S<VLRSFRLLRVFKLAKSWPTLNMLIKIIGNS | 696 |
SCN7A | GWNIFDSMIVFHGLIELCLANVA-----GM>A<LLRLFRMLRIFKLGKYWPTFQILMWSLSNS | 623 |
SCN8A | GWNIFDGFIVSLSLMELSLADVE-----GL>S<VLRSFRLLRVFKLAKSWPTLNMLIKIIGNS | 871 |
SCN9A | GWNIFDSLIVTLSLVELFLADVE-----GL>S<VLRSFRLLRVFKLAKSWPTLNMLIKIIGNS | 851 |
SCN10A | KWNIFDCIIVTVSLLELGVAKKG-----SL>S<VLRSFRLLRVFKLAKSWPTLNTLIKIIGNS | 783 |
SCN11A | GWNIFDSIVALLSFADVMNCVLQKR---SW>P<FLRSFRVLRVFKLAKSWPTLNTLIKIIGNS | 697 |
CACNA1A | SFNCFDCGVIIGSIFEVIWAVIKPGTSFGI>S<VLRALRLLRIFKVTKYWASLRNLVVSLLNS | 610 |
CACNA1B | SFNCFDFGVIVGSVFEVVWAAIKPGSSFGI>S<VLRALRLLRIFKVTKYWSSLRNLVVSLLNS | 606 |
CACNA1C | LFNRFDCFVVCGGILETILVETKIMSPLGI>S<VLRCVRLLRIFKITRYWNSLSNLVASLLNS | 647 |
CACNA1D | LFNRFDCFVVCGGITETILVELEIMSPLGI>S<VFRCVRLLRIFKVTRHWTSLSNLVASLLNS | 666 |
CACNA1E | SFNCFDFGVTVGSIFEVVWAIFRPGTSFGI>S<VLRALRLLRIFKITKYWASLRNLVVSLMSS | 599 |
CACNA1F | FFNRFDCFVVCGGILETTLVEVGAMQPLGI>S<VLRCVRLLRIFKVTRHWASLSNLVASLLNS | 652 |
CACNA1G | PYNIFDGVIVVISVWEIVGQQGG-----GL>S<VLRTFRLMRVLKLVRFLPALQRQLVVLMKT | 861 |
CACNA1H | PYNIFDGIIVVISVWEIVGQADG-----GL>S<VLRTFRLLRVLKLVRFLPALRRQLVVLVKT | 911 |
CACNA1I | PYNIFDSIIVIISIWEIVGQADG-----GL>S<VLRTFRLLRVLKLVRFMPALRRQLVVLMKT | 758 |
CACNA1S | IFNRFDCFVVCSGILEILLVESGAMTPLGI>S<VLRCIRLLRIFKITKYWTSLSNLVASLLNS | 555 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S805L | c.2414C>T | Putative Benign | SIFT: Polyphen: |