No paralogue variants have been mapped to residue 1820 for SCN5A.
SCN5A | DFDMFYEIWEKFDPEATQFIEYSVLSDFAD>A<LSEPLR--IAK--PNQI---SLINMDLPMV | 1843 |
SCN1A | DFEMFYEVWEKFDPDATQFMEFEKLSQFAA>A<LEPPLN--LPQ--PNKL---QLIAMDLPMV | 1857 |
SCN2A | DFEMFYEVWEKFDPDATQFIEFAKLSDFAD>A<LDPPLL--IAK--PNKV---QLIAMDLPMV | 1847 |
SCN3A | DFEMFYEVWEKFDPDATQFIEFSKLSDFAA>A<LDPPLL--IAK--PNKV---QLIAMDLPMV | 1842 |
SCN4A | DFEMFYETWEKFDPDATQFIAYSRLSDFVD>T<LQEPLR--IAK--PNKI---KLITLDLPMV | 1669 |
SCN7A | DFRKFFQVWKRFDPDRTQYIDSSKLSDFAA>A<LDPPLF--MAK--PNKG---QLIALDLPMA | 1567 |
SCN8A | DFETFYEIWEKFDPDATQFIEYCKLADFAD>A<LEHPLR--VPK--PNTI---ELIAMDLPMV | 1837 |
SCN9A | DFEMFYEVWEKFDPDATQFIEFSKLSDFAA>A<LDPPLL--IAK--PNKV---QLIAMDLPMV | 1820 |
SCN10A | DFDMFYETWEKFDPEATQFITFSALSDFAD>T<LSGPLR--IPK--PNRN---ILIQMDLPLV | 1793 |
SCN11A | DFDIFYEVWEKFDPEATQFIKYSALSDFAD>A<LPEPLR--VAK--PNKY---QFLVMDLPMV | 1675 |
CACNA1A | HLDEYVRVWAEYDPAACGRIHYKDMYSLLR>V<ISPPLG--LGKKCPHRVACKRLLRMDLPVA | 1886 |
CACNA1B | HLDEFIRVWAEYDPAACGRISYNDMFEMLK>H<MSPPLG--LGKKCPARVAYKRLVRMNMPIS | 1784 |
CACNA1C | HLDEFKRIWAEYDPEAKGRIKHLDVVTLLR>R<IQPPLG--FGKLCPHRVACKRLVSMNMPLN | 1551 |
CACNA1D | HLDEFKRIWSEYDPEAKGRIKHLDVVTLLR>R<IQPPLG--FGKLCPHRVACKRLVAMNMPLN | 1559 |
CACNA1E | HLDEFVRVWAEYDRAACGRIHYTEMYEMLT>L<MSPPLG--LGKRCPSKVAYKRLVLMNMPVA | 1798 |
CACNA1F | HLDEFKRIWSEYDPGAKGRIKHLDVVALLR>R<IQPPLG--FGKLCPHRVACKRLVAMNMPLN | 1516 |
CACNA1G | ELEAELELEMKT-LSPQPHSPLGSPF-LWP>G<VEGPDS--PDSPKPGAL---------HPAA | 1913 |
CACNA1H | ELDAEIELEMAQGPGSARRVDADRP----->-<---PLP--QESPG--AR--------DAPN- | 1913 |
CACNA1I | EMDAELELEMAHGLGPGPRLPTGSPGAPGR>-<--GPGGAGGGGDT--EG---GLCRRCYSPA | 1797 |
CACNA1S | HLDEFKAIWAEYDPEAKGRIKHLDVVTLLR>R<IQPPLG--FGKFCPHRVACKRLVGMNMPLN | 1456 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1820T | c.5458G>A | Putative Benign | SIFT: Polyphen: |