No paralogue variants have been mapped to residue 1750 for SCN5A.
SCN5A | PPYCDPTLPN-S-NGSRGD---CGSPAVGI>L<FFTTYIIISFLIVVNMYIAIILENFSVATE | 1780 |
SCN1A | PPDCDPNKVN-PGSSVKGD---CGNPSVGI>F<FFVSYIIISFLVVVNMYIAVILENFSVATE | 1794 |
SCN2A | PPDCDPDKDH-PGSSVKGD---CGNPSVGI>F<FFVSYIIISFLVVVNMYIAVILENFSVATE | 1784 |
SCN3A | PPDCDPDTIH-PGSSVKGD---CGNPSVGI>F<FFVSYIIISFLVVVNMYIAVILENFSVATE | 1779 |
SCN4A | PPDCDPNLEN-PGTSVKGD---CGNPSIGI>C<FFCSYIIISFLIVVNMYIAIILENFNVATE | 1606 |
SCN7A | WSDCDPDKIN-PGTQVRGD---CGNPSVGI>F<YFVSYILISWLIIVNMYIVVVMEFLNIASK | 1504 |
SCN8A | PPDCSLDKEH-PGSGFKGD---CGNPSVGI>F<FFVSYIIISFLIVVNMYIAIILENFSVATE | 1774 |
SCN9A | PPDCDPKKVH-PGSSVEGD---CGNPSVGI>F<YFVSYIIISFLVVVNMYIAVILENFSVATE | 1757 |
SCN10A | PPYCDPNLPN-S-NGTRGD---CGSPAVGI>I<FFTTYIIISFLIMVNMYIAVILENFNVATE | 1730 |
SCN11A | ES-CN---------SSSEN---CHLPGIAT>S<YFVSYIIISFLIVVNMYIAVILENFNTATE | 1612 |
CACNA1A | -KPCDKNSGIL-----T-R--ECGN-EFAY>F<YFVSFIFLCSFLMLNLFVAVIMDNFEYLTR | 1819 |
CACNA1B | -QACDE---Q------A-NATECGS-DFAY>F<YFVSFIFLCSFLMLNLFVAVIMDNFEYLTR | 1717 |
CACNA1C | -KKCAPESEP-SNSTEGETP--CGS-SFAV>F<YFISFYMLCAFLIINLFVAVIMDNFDYLTR | 1484 |
CACNA1D | -KLCDPESDY--NPGE-EYT--CGS-NFAI>V<YFISFYMLCAFLIINLFVAVIMDNFDYLTR | 1492 |
CACNA1E | -KGCEPDTTAPSGQNEN-E--RCGT-DLAY>V<YFVSFIFFCSFLMLNLFVAVIMDNFEYLTR | 1731 |
CACNA1F | -NRCDPESDF--GPGE-EFT--CGS-NFAI>A<YFISFFMLCAFLIINLFVAVIMDNFDYLTR | 1449 |
CACNA1G | ---CDQEST-----C-------YNT-VISP>I<YFVSFVLTAQFVLVNVVIAVLMKHLEESNK | 1859 |
CACNA1H | ---CSREDKH----C---LS--YLP-ALSP>V<YFVTFVLVAQFVLVNVVVAVLMKHLEESNK | 1868 |
CACNA1I | ---CTHDERS----C---LS--SLQ-FVSP>L<YFVSFVLTAQFVLINVVVAVLMKHLDDSNK | 1738 |
CACNA1S | -KLCDPESDY--APGE-EYT--CGT-NFAY>Y<YFISFYMLCAFLVINLFVAVIMDNFDYLTR | 1389 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1750I | c.5248C>A | Putative Benign | rs45606037 | SIFT: tolerated Polyphen: probably damaging |