Paralogue Annotation for SCN5A residue 731

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 731
Reference Amino Acid: T - Threonine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 731

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AT501MEpisodic ataxia 2High9 20129625, 24498617, 24498617
SCN8AT767IEpileptic encephalopathyHigh9 24874546, 24874546

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.



SCN5APLWMSIKQGVKLVVMDPFTDLTITMCIVLN>T<LFMALEHYNMTSEFEEMLQVGNLVFTGIFT761
SCN1APYWLKVKHVVNLVVMDPFVDLAITICIVLN>T<LFMAMEHYPMTDHFNNVLTVGNLVFTGIFT812
SCN2AKPWLKVKHLVNLVVMDPFVDLAITICIVLN>T<LFMAMEHYPMTEQFSSVLSVGNLVFTGIFT803
SCN3ADAWLKVKHLVNLIVMDPFVDLAITICIVLN>T<LFMAMEHYPMTEQFSSVLTVGNLVFTGIFT804
SCN4AAPWLKFKNIIHLIVMDPFVDLGITICIVLN>T<LFMAMEHYPMTEHFDNVLTVGNLVFTGIFT622
SCN7APCWLKLKEFVHRIIMAPFTDLFLIICIILN>V<CFLTLEHYPMSKQTNTLLNIGNLVFIGIFT549
SCN8APYWIKLKEIVNLIVMDPFVDLAITICIVLN>T<LFMAMEHHPMTPQFEHVLAVGNLVFTGIFT797
SCN9APYWIKFKKCIYFIVMDPFVDLAITICIVLN>T<LFMAMEHHPMTEEFKNVLAIGNLVFTGIFA777
SCN10APMWVKLKTILFGLVTDPFAELTITLCIVVN>T<IFMAMEHHGMSPTFEAMLQIGNIVFTIFFT709
SCN11APQWLCVKKVLRTVMTDPFTELAITICIIIN>T<VFLAMEHHKMEASFEKMLNIGNLVFTSIFI621
CACNA1AKKERRMRFYIRRMVKTQAFYWTVLSLVALN>T<LCVAIVHYNQPEWLSDFLYYAEFIFLGLFM531
CACNA1BRKEKMFRFFIRRMVKAQSFYWVVLCVVALN>T<LCVAMVHYNQPRRLTTTLYFAEFVFLGLFL527
CACNA1CRWNRFCRRKCRAAVKSNVFYWLVIFLVFLN>T<LTIASEHYNQPNWLTEVQDTANKALLALFT568
CACNA1DRWNRFNRRRCRAAVKSVTFYWLVIVLVFLN>T<LTISSEHYNQPDWLTQIQDIANKVLLALFT587
CACNA1EHKERLLRISIRHMVKSQVFYWIVLSLVALN>T<ACVAIVHHNQPQWLTHLLYYAEFLFLGLFL520
CACNA1FRANRVLRARCRRAVKSNACYWAVLLLVFLN>T<LTIASEHHGQPVWLTQIQEYANKVLLCLFT573
CACNA1GAFWRLICDTFRKIVDSKYFGRGIMIAILVN>T<LSMGIEYHEQPEELTNALEISNIVFTSLFA787
CACNA1HRLWVTFSGKLRRIVDSKYFSRGIMMAILVN>T<LSMGVEYHEQPEELTNALEISNIVFTSMFA837
CACNA1IDVWRETRAKLRGIVDSKYFNRGIMMAILVN>T<VSMGIEHHEQPEELTNILEICNVVFTSMFA684
CACNA1SQWNRIFRWKCHDIVKSKVFYWLVILIVALN>T<LSIASEHHNQPLWLTRLQDIANRVLLSLFT476
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T731Ic.2192C>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085