Paralogue Annotation for SCN5A residue 759

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 759
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 759

No paralogue variants have been mapped to residue 759 for SCN5A.



SCN5ALNTLFMALEHYNMTSEFEEMLQVGNLVFTG>I<FTAEMTFKIIALDPYYYFQQGWNIFDSIIV789
SCN1ALNTLFMAMEHYPMTDHFNNVLTVGNLVFTG>I<FTAEMFLKIIAMDPYYYFQEGWNIFDGFIV840
SCN2ALNTLFMAMEHYPMTEQFSSVLSVGNLVFTG>I<FTAEMFLKIIAMDPYYYFQEGWNIFDGFIV831
SCN3ALNTLFMAMEHYPMTEQFSSVLTVGNLVFTG>I<FTAEMVLKIIAMDPYYYFQEGWNIFDGIIV832
SCN4ALNTLFMAMEHYPMTEHFDNVLTVGNLVFTG>I<FTAEMVLKLIAMDPYEYFQQGWNIFDSIIV650
SCN7ALNVCFLTLEHYPMSKQTNTLLNIGNLVFIG>I<FTAEMIFKIIAMHPYGYFQVGWNIFDSMIV577
SCN8ALNTLFMAMEHHPMTPQFEHVLAVGNLVFTG>I<FTAEMFLKLIAMDPYYYFQEGWNIFDGFIV825
SCN9ALNTLFMAMEHHPMTEEFKNVLAIGNLVFTG>I<FAAEMVLKLIAMDPYEYFQVGWNIFDSLIV805
SCN10AVNTIFMAMEHHGMSPTFEAMLQIGNIVFTI>F<FTAEMVFKIIAFDPYYYFQKKWNIFDCIIV737
SCN11AINTVFLAMEHHKMEASFEKMLNIGNLVFTS>I<FIAEMCLKIIALDPYHYFRRGWNIFDSIVA649
CACNA1ALNTLCVAIVHYNQPEWLSDFLYYAEFIFLG>L<FMSEMFIKMYGLGTRPYFHSSFNCFDCGVI559
CACNA1BLNTLCVAMVHYNQPRRLTTTLYFAEFVFLG>L<FLTEMSLKMYGLGPRSYFRSSFNCFDFGVI555
CACNA1CLNTLTIASEHYNQPNWLTEVQDTANKALLA>L<FTAEMLLKMYSLGLQAYFVSLFNRFDCFVV596
CACNA1DLNTLTISSEHYNQPDWLTQIQDIANKVLLA>L<FTCEMLVKMYSLGLQAYFVSLFNRFDCFVV615
CACNA1ELNTACVAIVHHNQPQWLTHLLYYAEFLFLG>L<FLLEMSLKMYGMGPRLYFHSSFNCFDFGVT548
CACNA1FLNTLTIASEHHGQPVWLTQIQEYANKVLLC>L<FTVEMLLKLYGLGPSAYVSSFFNRFDCFVV601
CACNA1GVNTLSMGIEYHEQPEELTNALEISNIVFTS>L<FALEMLLKLLVYGPFGYIKNPYNIFDGVIV815
CACNA1HVNTLSMGVEYHEQPEELTNALEISNIVFTS>M<FALEMLLKLLACGPLGYIRNPYNIFDGIIV865
CACNA1IVNTVSMGIEHHEQPEELTNILEICNVVFTS>M<FALEMILKLAAFGLFDYLRNPYNIFDSIIV712
CACNA1SLNTLSIASEHHNQPLWLTRLQDIANRVLLS>L<FTTEMLMKMYGLGLRQYFMSIFNRFDCFVV504
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I759Fc.2275A>T Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: possibly damaging
ReportsInherited ArrhythmiaLQTS The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat. 2009 30(11):1486-511. 19862833
Inherited ArrhythmiaLQTS Long QT molecular autopsy in sudden infant death syndrome. Arch Dis Child. 2014 99(7):635-40. 24596401
p.I759Vc.2275A>G Putative BenignSIFT:
Polyphen: