Paralogue Annotation for RYR1 residue 1494

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1494
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1494

No paralogue variants have been mapped to residue 1494 for RYR1.

RYR1	DLSKVRVVTVTMGDEQGNVHSSLKCSNCYM>V<WGGDFVSPGQQGRISHTDLVIGCLVDLATG	1524
RYR2	DLDRVRTVTVTLGDEKGKVHESIKRSNCYM>V<CAGESMSPGQ-G-RNNNGLEIGCVVDAASG	1516
RYR3	DLNKNCTVTVTLGDERGRVHESVKRSNCYM>V<WGGDIVASSQRSNRSNVDLEIGCLVDLAMG	1420
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1494A	c.4481T>C	Putative Benign			SIFT: Polyphen:
p.Val1494Leu	c.4480G>C	Unknown			SIFT: Polyphen: