Paralogue Annotation for SCN5A residue 115

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 115
Reference Amino Acid: S - Serine
Protein Domain: N-terminus

Paralogue Variants mapped to SCN5A residue 115

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	T112I	Myoclonic epilepsy of infancy	Medium	9	12566275

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	YSTQK-TFI-VLNKGKTIFRFSATNALYVL>S<PFHPIRRAAVKILVHSLFNMLIMCTILTNC	145
SCN1A	YINKK-TFI-VLNKGKAIFRFSATSALYIL>T<PFNPLRKIAIKILVHSLFSMLIMCTILTNC	142
SCN2A	YINKK-TFI-VLNKGKAISRFSATPALYIL>T<PFNPIRKLAIKILVHSLFNMLIMCTILTNC	143
SCN3A	YINKK-TFI-VMNKGKAIFRFSATSALYIL>T<PLNPVRKIAIKILVHSLFSMLIMCTILTNC	142
SCN4A	YSNKK-TFI-VLNKGKAIFRFSATPALYLL>S<PFSVVRRGAIKVLIHALFSMFIMITILTNC	145
SCN7A	YYKKKNTFI-VLNKNRTIFRFNAASILCTL>S<PFNCIRRTTIKVLVHPFFQLFILISVLIDC	132
SCN8A	YLTQK-TFV-VLNRGKTLFRFSATPALYIL>S<PFNLIRRIAIKILIHSVFSMIIMCTILTNC	146
SCN9A	YADKK-TFI-VLNKGKTIFRFNATPALYML>S<PFSPLRRISIKILVHSLFSMLIMCTILTNC	140
SCN10A	YSTHR-TFM-VLNKGRTISRFSATRALWLF>S<PFNLIRRTAIKVSVHSWFSLFITVTILVNC	144
SCN11A	YRNHK-TFM-VLNRKRTIYRFSAKHALFIF>G<PFNSIRSLAIRVSVHSLFSMFIIGTVIINC	143
CACNA1A	AQRARTMAL-YNPIPVRQNCLTVNRSLFLF>S<EDNVVRKYAKKITEWPPFEYMILATIIANC	112
CACNA1B	AQRARTMAL-YNPIPVKQNCFTVNRSLFVF>S<EDNVVRKYAKRITEWPPFEYMILATIIANC	109
CACNA1C	-QRKRQQYG-KPKKQGSTTATRPPRALLCL>T<LKNPIRRACISIVEWKPFEIIILLTIFANC	138
CACNA1D	SQRKRQQYA-KSKKQGNSSNSRPARALFCL>S<LNNPIRRACISIVEWKPFDIFILLAIFANC	140
CACNA1E	AQRARTMAL-YNPIPVRQNCFTVNRSLFIF>G<EDNIVRKYAKKLIDWPPFEYMILATIIANC	103
CACNA1F	TPKRRNQHS-KHKTVAVASAQRSPRALFCL>T<LANPLRRSCISIVEWKPFDILILLTIFANC	106
CACNA1G	--EKDPG-SADSEAEGLPYPALAPVVFFYL>S<QDSRPRSWCLRTVCNPWFERISMLVILLNC	95
CACNA1H	--ERGAELG-ADEEQRVPYPALAATVFFCL>G<QTTRPRSWCLRLVCNPWFEHVSMLVIMLNC	114
CACNA1I	--LEEPL-D-G-ADPHVPHPDLAPIAFFCL>R<QTTSPRNWCIKMVCNPWFECVSMLVILLNC	93
CACNA1S	PQDEGLRKK-QPKKPVPEILPRPPRALFCL>T<LENPLRKACISIVEWKPFETIILLTIFANC	65
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S115G	c.343A>G	Inherited Arrhythmia	LQTS	rs199473057	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