Paralogue Annotation for SCN5A residue 742

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 742
Reference Amino Acid: T - Threonine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 742

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AT793MDravet syndromeHigh9 22848613

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.



SCN5ALVVMDPFTDLTITMCIVLNTLFMALEHYNM>T<SEFEEMLQVGNLVFTGIFTAEMTFKIIALD772
SCN1ALVVMDPFVDLAITICIVLNTLFMAMEHYPM>T<DHFNNVLTVGNLVFTGIFTAEMFLKIIAMD823
SCN2ALVVMDPFVDLAITICIVLNTLFMAMEHYPM>T<EQFSSVLSVGNLVFTGIFTAEMFLKIIAMD814
SCN3ALIVMDPFVDLAITICIVLNTLFMAMEHYPM>T<EQFSSVLTVGNLVFTGIFTAEMVLKIIAMD815
SCN4ALIVMDPFVDLGITICIVLNTLFMAMEHYPM>T<EHFDNVLTVGNLVFTGIFTAEMVLKLIAMD633
SCN7ARIIMAPFTDLFLIICIILNVCFLTLEHYPM>S<KQTNTLLNIGNLVFIGIFTAEMIFKIIAMH560
SCN8ALIVMDPFVDLAITICIVLNTLFMAMEHHPM>T<PQFEHVLAVGNLVFTGIFTAEMFLKLIAMD808
SCN9AFIVMDPFVDLAITICIVLNTLFMAMEHHPM>T<EEFKNVLAIGNLVFTGIFAAEMVLKLIAMD788
SCN10AGLVTDPFAELTITLCIVVNTIFMAMEHHGM>S<PTFEAMLQIGNIVFTIFFTAEMVFKIIAFD720
SCN11ATVMTDPFTELAITICIIINTVFLAMEHHKM>E<ASFEKMLNIGNLVFTSIFIAEMCLKIIALD632
CACNA1ARMVKTQAFYWTVLSLVALNTLCVAIVHYNQ>P<EWLSDFLYYAEFIFLGLFMSEMFIKMYGLG542
CACNA1BRMVKAQSFYWVVLCVVALNTLCVAMVHYNQ>P<RRLTTTLYFAEFVFLGLFLTEMSLKMYGLG538
CACNA1CAAVKSNVFYWLVIFLVFLNTLTIASEHYNQ>P<NWLTEVQDTANKALLALFTAEMLLKMYSLG579
CACNA1DAAVKSVTFYWLVIVLVFLNTLTISSEHYNQ>P<DWLTQIQDIANKVLLALFTCEMLVKMYSLG598
CACNA1EHMVKSQVFYWIVLSLVALNTACVAIVHHNQ>P<QWLTHLLYYAEFLFLGLFLLEMSLKMYGMG531
CACNA1FRAVKSNACYWAVLLLVFLNTLTIASEHHGQ>P<VWLTQIQEYANKVLLCLFTVEMLLKLYGLG584
CACNA1GKIVDSKYFGRGIMIAILVNTLSMGIEYHEQ>P<EELTNALEISNIVFTSLFALEMLLKLLVYG798
CACNA1HRIVDSKYFSRGIMMAILVNTLSMGVEYHEQ>P<EELTNALEISNIVFTSMFALEMLLKLLACG848
CACNA1IGIVDSKYFNRGIMMAILVNTVSMGIEHHEQ>P<EELTNILEICNVVFTSMFALEMILKLAAFG695
CACNA1SDIVKSKVFYWLVILIVALNTLSIASEHHNQ>P<LWLTRLQDIANRVLLSLFTTEMLMKMYGLG487
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T742Ac.2224A>G Putative BenignSIFT:
Polyphen: