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

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1A	T501M	Episodic ataxia 2	High	9	20129625, 24498617, 24498617
SCN8A	T767I	Epileptic encephalopathy	High	9	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.

SCN5A	PLWMSIKQGVKLVVMDPFTDLTITMCIVLN>T<LFMALEHYNMTSEFEEMLQVGNLVFTGIFT	761
SCN1A	PYWLKVKHVVNLVVMDPFVDLAITICIVLN>T<LFMAMEHYPMTDHFNNVLTVGNLVFTGIFT	812
SCN2A	KPWLKVKHLVNLVVMDPFVDLAITICIVLN>T<LFMAMEHYPMTEQFSSVLSVGNLVFTGIFT	803
SCN3A	DAWLKVKHLVNLIVMDPFVDLAITICIVLN>T<LFMAMEHYPMTEQFSSVLTVGNLVFTGIFT	804
SCN4A	APWLKFKNIIHLIVMDPFVDLGITICIVLN>T<LFMAMEHYPMTEHFDNVLTVGNLVFTGIFT	622
SCN7A	PCWLKLKEFVHRIIMAPFTDLFLIICIILN>V<CFLTLEHYPMSKQTNTLLNIGNLVFIGIFT	549
SCN8A	PYWIKLKEIVNLIVMDPFVDLAITICIVLN>T<LFMAMEHHPMTPQFEHVLAVGNLVFTGIFT	797
SCN9A	PYWIKFKKCIYFIVMDPFVDLAITICIVLN>T<LFMAMEHHPMTEEFKNVLAIGNLVFTGIFA	777
SCN10A	PMWVKLKTILFGLVTDPFAELTITLCIVVN>T<IFMAMEHHGMSPTFEAMLQIGNIVFTIFFT	709
SCN11A	PQWLCVKKVLRTVMTDPFTELAITICIIIN>T<VFLAMEHHKMEASFEKMLNIGNLVFTSIFI	621
CACNA1A	KKERRMRFYIRRMVKTQAFYWTVLSLVALN>T<LCVAIVHYNQPEWLSDFLYYAEFIFLGLFM	531
CACNA1B	RKEKMFRFFIRRMVKAQSFYWVVLCVVALN>T<LCVAMVHYNQPRRLTTTLYFAEFVFLGLFL	527
CACNA1C	RWNRFCRRKCRAAVKSNVFYWLVIFLVFLN>T<LTIASEHYNQPNWLTEVQDTANKALLALFT	568
CACNA1D	RWNRFNRRRCRAAVKSVTFYWLVIVLVFLN>T<LTISSEHYNQPDWLTQIQDIANKVLLALFT	587
CACNA1E	HKERLLRISIRHMVKSQVFYWIVLSLVALN>T<ACVAIVHHNQPQWLTHLLYYAEFLFLGLFL	520
CACNA1F	RANRVLRARCRRAVKSNACYWAVLLLVFLN>T<LTIASEHHGQPVWLTQIQEYANKVLLCLFT	573
CACNA1G	AFWRLICDTFRKIVDSKYFGRGIMIAILVN>T<LSMGIEYHEQPEELTNALEISNIVFTSLFA	787
CACNA1H	RLWVTFSGKLRRIVDSKYFSRGIMMAILVN>T<LSMGVEYHEQPEELTNALEISNIVFTSMFA	837
CACNA1I	DVWRETRAKLRGIVDSKYFNRGIMMAILVN>T<VSMGIEHHEQPEELTNILEICNVVFTSMFA	684
CACNA1S	QWNRIFRWKCHDIVKSKVFYWLVILIVALN>T<LSIASEHHNQPLWLTRLQDIANRVLLSLFT	476
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T731I	c.2192C>T	Inherited Arrhythmia	LQTS	rs199473150	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	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