Paralogue Annotation for SCN5A residue 274

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 274
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 274

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1F	G261R	Night blindness, congenital stationary, incomplete	High	9	12111638

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	IQSVKKLADVMVLTVFCLSVFALIGLQLFM>G<NLRHKCVR--------------------NF	284
SCN1A	IQSVKKLSDVMILTVFCLSVFALIGLQLFM>G<NLRNKCIQ-WP-PTNASLEEH-SI-EKNIT	297
SCN2A	IQSVKKLSDVMILTVFCLSVFALIGLQLFM>G<NLRNKCLQ-WP-PDNSSFEIN-ITSFFNNS	299
SCN3A	IQSVKKLSDVMILTVFCLSVFALIGLQLFM>G<NLRNKCLQ-WP-PSDSAFETN-TTSYFNGT	298
SCN4A	IQSVKKLSDVMILTVFCLSVFALVGLQLFM>G<NLRQKCVR-WP-PPFN--DTN-TTWYSNDT	299
SCN7A	IHCLKQLIGVIILTLFFLSIFSLIGMGLFM>G<NLKHKCFR-WP-QENE--------------	275
SCN8A	IQSVKKLSDVMILTVFCLSVFALIGLQLFM>G<NLRNKCVV-WP-------------------	285
SCN9A	IQSVKKLSDVMILTVFCLSVFALIGLQLFM>G<NLKHKCFR-NS-------------------	279
SCN10A	IHSVKKLADVTILTIFCLSVFALVGLQLFK>G<NLKNKCVK-N-------------------D	280
SCN11A	LRSVKKLVNVIILTFFCLSIFALVGQQLFM>G<SLNLKCIS-R-------------------D	287
CACNA1A	MKAMIPLLQIGLLLFFAILIFAIIGLEFYM>G<KFHTTCFE-E-GTD------------DI--	264
CACNA1B	MKAMVPLLQIGLLLFFAILMFAIIGLEFYM>G<KFHKACFP-N-STD------------A---	260
CACNA1C	IKAMVPLLHIALLVLFVIIIYAIIGLELFM>G<KMHKTCYNQEGIAD-------------V--	307
CACNA1D	IKAMVPLLHIALLVLFVIIIYAIIGLELFI>G<KMHKTCFF-A-DSD-------------I--	308
CACNA1E	MKAMVPLLQIGLLLFFAILMFAIIGLEFYS>G<KLHRACFM-N-NSG------------IL--	259
CACNA1F	MKALVPLLHIALLVLFVIIIYAIIGLELFL>G<RMHKTCYF-L-GSD-------------M--	274
CACNA1G	LDTLPMLGNVLLLCFFVFFIFGIVGVQLWA>G<LLRNRCFL-P-ENFSLPLSVD-LE-RYYQT	261
CACNA1H	LDTLPMLGNVLLLCFFVFFIFGIVGVQLWA>G<LLRNRCFL-D-SAFVRNNNLTFLR-PYYQT	281
CACNA1I	LDTLPMLGNVLLLCFFVFFIFGIIGVQLWA>G<LLRNRCFL-E-ENFTIQGDVA-LP-PYYQP	259
CACNA1S	FKAMLPLFHIALLVLFMVIIYAIIGLELFK>G<KMHKTCYF-I-GTD-------------I--	233
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Gly274Ser	c.820G>A	Unknown			SIFT: Polyphen: