Paralogue Annotation for SCN5A residue 906

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 906
Reference Amino Acid: C - Cysteine
Protein Domain: TM Domain 2

Paralogue Variants mapped to SCN5A residue 906

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	C959R	Myoclonic epilepsy of infancy	High	9	12754708, 17054685
SCN1A	C959Y	Dravet syndrome	High	9	24168886, 23934111
CACNA1H	G983S	Idiopathic epilepsy, generalised	Medium	9	17696120

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	PRWHMMDFFHAFLIIFRILCGE-WIETMWD>C<MEV-----SGQSLCLLVFLLVMVIGNLVVL	931
SCN1A	PRWHMNDFFHSFLIVFRVLCGE-WIETMWD>C<MEV-----AGQAMCLTVFMMVMVIGNLVVL	984
SCN2A	PRWHMHDFFHSFLIVFRVLCGE-WIETMWD>C<MEV-----AGQTMCLTVFMMVMVIGNLVVL	975
SCN3A	PRWHMNDFFHSFLIVFRVLCGE-WIETMWD>C<MEV-----AGQTMCLIVFMLVMVIGNLVVL	976
SCN4A	PRWHMHDFFHSFLIVFRILCGE-WIETMWD>C<MEV-----AGQAMCLTVFLMVMVIGNLVVL	794
SCN7A	PRWHMHDFFHSFLNVFRILCGE-WVETLWD>C<MEV-----AGQSWCIPFYLMVILIGNLLVL	721
SCN8A	PRWHMHDFFHSFLIVFRVLCGE-WIETMWD>C<MEV-----AGQAMCLIVFMMVMVIGNLVVL	969
SCN9A	PRWHMNDFFHSFLIVFRVLCGE-WIETMWD>C<MEV-----AGQAMCLIVYMMVMVIGNLVVL	949
SCN10A	PRWHMHDFFHSFLIVFRILCGE-WIENMWA>C<MEV-----GQKSICLILFLTVMVLGNLVVL	882
SCN11A	RHWHMGDFWHSFLVVFRILCGE-WIENMWE>C<MQEAN---ASSSLCVIVFILITVIGKLVVL	803
CACNA1A	PPTNFDTFPAAIMTVFQILTGEDWNEVMYD>G<IKSQGGV-QGGMVFSIYFIVLTLFGNYTLL	706
CACNA1B	PTTNFDTFPAAILTVFQILTGEDWNAVMYH>G<IESQGGV-SKGMFSSFYFIVLTLFGNYTLL	702
CACNA1C	RRSTFDNFPQSLLTVFQILTGEDWNSVMYD>G<IMAYGGPSFPGMLVCIYFIILFICGNYILL	745
CACNA1D	KRSTFDNFPQALLTVFQILTGEDWNAVMYD>G<IMAYGGPSSSGMIVCIYFIILFICGNYILL	764
CACNA1E	PSANFDTFPAAIMTVFQILTGEDWNEVMYN>G<IRSQGGV-SSGMWSAIYFIVLTLFGNYTLL	695
CACNA1F	KRSTFDTFPQALLTVFQILTGEDWNVVMYD>G<IMAYGGPFFPGMLVCIYFIILFICGNYILL	750
CACNA1G	DRKNFDSLLWAIVTVFQILTQEDWNKVLYN>G<MAS-T-S----SWAALYFIALMTFGNYVLF	956
CACNA1H	DRKNFDSLLWAIVTVFQILTQEDWNVVLYN>G<MAS-T-S----SWAALYFVALMTFGNYVLF	1007
CACNA1I	DRKNFDSLLWAIVTVFQILTQEDWNVVLYN>G<MAS-T-S----PWASLYFVALMTFGNYVLF	854
CACNA1S	RRSNFDNFPQALISVFQVLTGEDWTSMMYN>G<IMAYGGPSYPGMLVCIYFIILFVCGNYILL	653
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Cys906Arg	c.2716T>C	Unknown			SIFT: Polyphen: