Paralogue Annotation for SCN5A residue 895

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 895
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 2

Paralogue Variants mapped to SCN5A residue 895

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1F	L708P	Night blindness, congenital stationary 2	High	9	24163243

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	---D-SG---LLPRWHMMDFFHAFLIIFRI>L<CGE-WIETMWDCMEV-----SGQSLCLLVF	919
SCN1A	---I-AS-DCQLPRWHMNDFFHSFLIVFRV>L<CGE-WIETMWDCMEV-----AGQAMCLTVF	972
SCN2A	---I-SN-DCELPRWHMHDFFHSFLIVFRV>L<CGE-WIETMWDCMEV-----AGQTMCLTVF	963
SCN3A	---I-ND-DCTLPRWHMNDFFHSFLIVFRV>L<CGE-WIETMWDCMEV-----AGQTMCLIVF	964
SCN4A	---I-AL-DCNLPRWHMHDFFHSFLIVFRI>L<CGE-WIETMWDCMEV-----AGQAMCLTVF	782
SCN7A	---I-DK-DCQLPRWHMHDFFHSFLNVFRI>L<CGE-WVETLWDCMEV-----AGQSWCIPFY	709
SCN8A	---I-NQ-DCELPRWHMHDFFHSFLIVFRV>L<CGE-WIETMWDCMEV-----AGQAMCLIVF	957
SCN9A	---I-ND-DCTLPRWHMNDFFHSFLIVFRV>L<CGE-WIETMWDCMEV-----AGQAMCLIVY	937
SCN10A	---I-SAPHEDWPRWHMHDFFHSFLIVFRI>L<CGE-WIENMWACMEV-----GQKSICLILF	870
SCN11A	LCNPTGPTVSCLRHWHMGDFWHSFLVVFRI>L<CGE-WIENMWECMQEAN---ASSSLCVIVF	791
CACNA1A	---------G-TPPTNFDTFPAAIMTVFQI>L<TGEDWNEVMYDGIKSQGGV-QGGMVFSIYF	694
CACNA1B	---------E-TPTTNFDTFPAAILTVFQI>L<TGEDWNAVMYHGIESQGGV-SKGMFSSFYF	690
CACNA1C	---------MQTRRSTFDNFPQSLLTVFQI>L<TGEDWNSVMYDGIMAYGGPSFPGMLVCIYF	733
CACNA1D	---------TQTKRSTFDNFPQALLTVFQI>L<TGEDWNAVMYDGIMAYGGPSSSGMIVCIYF	752
CACNA1E	---------G-TPSANFDTFPAAIMTVFQI>L<TGEDWNEVMYNGIRSQGGV-SSGMWSAIYF	683
CACNA1F	---------THTKRSTFDTFPQALLTVFQI>L<TGEDWNVVMYDGIMAYGGPFFPGMLVCIYF	738
CACNA1G	-----DG-DTLPDRKNFDSLLWAIVTVFQI>L<TQEDWNKVLYNGMAS-T-S----SWAALYF	944
CACNA1H	-----TG-DTVPDRKNFDSLLWAIVTVFQI>L<TQEDWNVVLYNGMAS-T-S----SWAALYF	995
CACNA1I	-----TG-DTVPDRKNFDSLLWAIVTVFQI>L<TQEDWNVVLYNGMAS-T-S----PWASLYF	842
CACNA1S	---------TEVRRSNFDNFPQALISVFQV>L<TGEDWTSMMYNGIMAYGGPSYPGMLVCIYF	641
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L895F	c.2683C>T	Putative Benign			SIFT: Polyphen: