Paralogue Annotation for SCN5A residue 113

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 113
Reference Amino Acid: V - Valine
Protein Domain: N-terminus

Paralogue Variants mapped to SCN5A residue 113

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1F	C74R	Night blindness, congenital stationary, incomplete	Medium	9	12111638, 22334370, 23714322

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	PFYSTQK-TFI-VLNKGKTIFRFSATNALY>V<LSPFHPIRRAAVKILVHSLFNMLIMCTILT	143
SCN1A	PYYINKK-TFI-VLNKGKAIFRFSATSALY>I<LTPFNPLRKIAIKILVHSLFSMLIMCTILT	140
SCN2A	PYYINKK-TFI-VLNKGKAISRFSATPALY>I<LTPFNPIRKLAIKILVHSLFNMLIMCTILT	141
SCN3A	PYYINKK-TFI-VMNKGKAIFRFSATSALY>I<LTPLNPVRKIAIKILVHSLFSMLIMCTILT	140
SCN4A	PYYSNKK-TFI-VLNKGKAIFRFSATPALY>L<LSPFSVVRRGAIKVLIHALFSMFIMITILT	143
SCN7A	PYYYKKKNTFI-VLNKNRTIFRFNAASILC>T<LSPFNCIRRTTIKVLVHPFFQLFILISVLI	130
SCN8A	PYYLTQK-TFV-VLNRGKTLFRFSATPALY>I<LSPFNLIRRIAIKILIHSVFSMIIMCTILT	144
SCN9A	PYYADKK-TFI-VLNKGKTIFRFNATPALY>M<LSPFSPLRRISIKILVHSLFSMLIMCTILT	138
SCN10A	PFYSTHR-TFM-VLNKGRTISRFSATRALW>L<FSPFNLIRRTAIKVSVHSWFSLFITVTILV	142
SCN11A	PFYRNHK-TFM-VLNRKRTIYRFSAKHALF>I<FGPFNSIRSLAIRVSVHSLFSMFIIGTVII	141
CACNA1A	SMAQRARTMAL-YNPIPVRQNCLTVNRSLF>L<FSEDNVVRKYAKKITEWPPFEYMILATIIA	110
CACNA1B	SIAQRARTMAL-YNPIPVKQNCFTVNRSLF>V<FSEDNVVRKYAKRITEWPPFEYMILATIIA	107
CACNA1C	ST-QRKRQQYG-KPKKQGSTTATRPPRALL>C<LTLKNPIRRACISIVEWKPFEIIILLTIFA	136
CACNA1D	SLSQRKRQQYA-KSKKQGNSSNSRPARALF>C<LSLNNPIRRACISIVEWKPFDIFILLAIFA	138
CACNA1E	TKAQRARTMAL-YNPIPVRQNCFTVNRSLF>I<FGEDNIVRKYAKKLIDWPPFEYMILATIIA	101
CACNA1F	LGTPKRRNQHS-KHKTVAVASAQRSPRALF>C<LTLANPLRRSCISIVEWKPFDILILLTIFA	104
CACNA1G	----EKDPG-SADSEAEGLPYPALAPVVFF>Y<LSQDSRPRSWCLRTVCNPWFERISMLVILL	93
CACNA1H	----ERGAELG-ADEEQRVPYPALAATVFF>C<LGQTTRPRSWCLRLVCNPWFEHVSMLVIML	112
CACNA1I	----LEEPL-D-G-ADPHVPHPDLAPIAFF>C<LRQTTSPRNWCIKMVCNPWFECVSMLVILL	91
CACNA1S	SSPQDEGLRKK-QPKKPVPEILPRPPRALF>C<LTLENPLRKACISIVEWKPFETIILLTIFA	63
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V113I	c.337G>A	Inherited Arrhythmia	LQTS	rs199473555	SIFT: tolerated Polyphen: benign
Reports		Inherited Arrhythmia	LQTS	Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041