No paralogue variants have been mapped to residue 1797 for SCN5A.
SCN5A | YIAIILENFSVATEESTEPLSEDDFDMFYE>I<WEKFDPEATQFIEYSVLSDFADALSEPLR- | 1826 |
SCN1A | YIAVILENFSVATEESAEPLSEDDFEMFYE>V<WEKFDPDATQFMEFEKLSQFAAALEPPLN- | 1840 |
SCN2A | YIAVILENFSVATEESAEPLSEDDFEMFYE>V<WEKFDPDATQFIEFAKLSDFADALDPPLL- | 1830 |
SCN3A | YIAVILENFSVATEESAEPLSEDDFEMFYE>V<WEKFDPDATQFIEFSKLSDFAAALDPPLL- | 1825 |
SCN4A | YIAIILENFNVATEESSEPLGEDDFEMFYE>T<WEKFDPDATQFIAYSRLSDFVDTLQEPLR- | 1652 |
SCN7A | YIVVVMEFLNIASKKKNKTLSEDDFRKFFQ>V<WKRFDPDRTQYIDSSKLSDFAAALDPPLF- | 1550 |
SCN8A | YIAIILENFSVATEESADPLSEDDFETFYE>I<WEKFDPDATQFIEYCKLADFADALEHPLR- | 1820 |
SCN9A | YIAVILENFSVATEESTEPLSEDDFEMFYE>V<WEKFDPDATQFIEFSKLSDFAAALDPPLL- | 1803 |
SCN10A | YIAVILENFNVATEESTEPLSEDDFDMFYE>T<WEKFDPEATQFITFSALSDFADTLSGPLR- | 1776 |
SCN11A | YIAVILENFNTATEESEDPLGEDDFDIFYE>V<WEKFDPEATQFIKYSALSDFADALPEPLR- | 1658 |
CACNA1A | FVAVIMDNFEYLTRDSSI-LGPHHLDEYVR>V<WAEYDPAACGRIHYKDMYSLLRVISPPLG- | 1864 |
CACNA1B | FVAVIMDNFEYLTRDSSI-LGPHHLDEFIR>V<WAEYDPAACGRISYNDMFEMLKHMSPPLG- | 1762 |
CACNA1C | FVAVIMDNFDYLTRDWSI-LGPHHLDEFKR>I<WAEYDPEAKGRIKHLDVVTLLRRIQPPLG- | 1529 |
CACNA1D | FVAVIMDNFDYLTRDWSI-LGPHHLDEFKR>I<WSEYDPEAKGRIKHLDVVTLLRRIQPPLG- | 1537 |
CACNA1E | FVAVIMDNFEYLTRDSSI-LGPHHLDEFVR>V<WAEYDRAACGRIHYTEMYEMLTLMSPPLG- | 1776 |
CACNA1F | FVAVIMDNFDYLTRDWSI-LGPHHLDEFKR>I<WSEYDPGAKGRIKHLDVVALLRRIQPPLG- | 1494 |
CACNA1G | VIAVLMKHLEESNKEAKE---EAELEAELE>L<EMKT-LSPQPHSPLGSPF-LWPGVEGPDS- | 1900 |
CACNA1H | VVAVLMKHLEESNKEARE---DAELDAEIE>L<EMAQGPGSARRVDADRP---------PLP- | 1902 |
CACNA1I | VVAVLMKHLDDSNKEAQE---DAEMDAELE>L<EMAHGLGPGPRLPTGSPGAPGR---GPGGA | 1779 |
CACNA1S | FVAVIMDNFDYLTRDWSI-LGPHHLDEFKA>I<WAEYDPEAKGRIKHLDVVTLLRRIQPPLG- | 1434 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I1797V | c.5389A>G | Putative Benign | rs377119709 | SIFT: tolerated Polyphen: benign |