Paralogue Annotation for SCN5A residue 1750

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1750
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1750

No paralogue variants have been mapped to residue 1750 for SCN5A.



SCN5APPYCDPTLPN-S-NGSRGD---CGSPAVGI>L<FFTTYIIISFLIVVNMYIAIILENFSVATE1780
SCN1APPDCDPNKVN-PGSSVKGD---CGNPSVGI>F<FFVSYIIISFLVVVNMYIAVILENFSVATE1794
SCN2APPDCDPDKDH-PGSSVKGD---CGNPSVGI>F<FFVSYIIISFLVVVNMYIAVILENFSVATE1784
SCN3APPDCDPDTIH-PGSSVKGD---CGNPSVGI>F<FFVSYIIISFLVVVNMYIAVILENFSVATE1779
SCN4APPDCDPNLEN-PGTSVKGD---CGNPSIGI>C<FFCSYIIISFLIVVNMYIAIILENFNVATE1606
SCN7AWSDCDPDKIN-PGTQVRGD---CGNPSVGI>F<YFVSYILISWLIIVNMYIVVVMEFLNIASK1504
SCN8APPDCSLDKEH-PGSGFKGD---CGNPSVGI>F<FFVSYIIISFLIVVNMYIAIILENFSVATE1774
SCN9APPDCDPKKVH-PGSSVEGD---CGNPSVGI>F<YFVSYIIISFLVVVNMYIAVILENFSVATE1757
SCN10APPYCDPNLPN-S-NGTRGD---CGSPAVGI>I<FFTTYIIISFLIMVNMYIAVILENFNVATE1730
SCN11AES-CN---------SSSEN---CHLPGIAT>S<YFVSYIIISFLIVVNMYIAVILENFNTATE1612
CACNA1A-KPCDKNSGIL-----T-R--ECGN-EFAY>F<YFVSFIFLCSFLMLNLFVAVIMDNFEYLTR1819
CACNA1B-QACDE---Q------A-NATECGS-DFAY>F<YFVSFIFLCSFLMLNLFVAVIMDNFEYLTR1717
CACNA1C-KKCAPESEP-SNSTEGETP--CGS-SFAV>F<YFISFYMLCAFLIINLFVAVIMDNFDYLTR1484
CACNA1D-KLCDPESDY--NPGE-EYT--CGS-NFAI>V<YFISFYMLCAFLIINLFVAVIMDNFDYLTR1492
CACNA1E-KGCEPDTTAPSGQNEN-E--RCGT-DLAY>V<YFVSFIFFCSFLMLNLFVAVIMDNFEYLTR1731
CACNA1F-NRCDPESDF--GPGE-EFT--CGS-NFAI>A<YFISFFMLCAFLIINLFVAVIMDNFDYLTR1449
CACNA1G---CDQEST-----C-------YNT-VISP>I<YFVSFVLTAQFVLVNVVIAVLMKHLEESNK1859
CACNA1H---CSREDKH----C---LS--YLP-ALSP>V<YFVTFVLVAQFVLVNVVVAVLMKHLEESNK1868
CACNA1I---CTHDERS----C---LS--SLQ-FVSP>L<YFVSFVLTAQFVLINVVVAVLMKHLDDSNK1738
CACNA1S-KLCDPESDY--APGE-EYT--CGT-NFAY>Y<YFISFYMLCAFLVINLFVAVIMDNFDYLTR1389
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L1750Ic.5248C>A Putative BenignSIFT: tolerated
Polyphen: probably damaging