Paralogue Annotation for RYR1 residue 1962

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1962
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1962

No paralogue variants have been mapped to residue 1962 for RYR1.

RYR1	PESVKLQMCHLLEYFCDQELQHRVESLAAF>A<ERYVDKLQANQRSRYGLLIKAFSMTAAETA	1992
RYR2	PEPVKLQMCLLLQYLCDCQVRHRIEAIVAF>S<DDFVAKLQDNQRFRYNEVMQALNMSAALTA	1959
RYR3	PESVKLQMCELLSYLCDCELQHRVEAIVAF>G<DIYVSKLQANQKFRYNELMQALNMSAALTA	1860
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1962V	c.5885C>T	Putative Benign			SIFT: Polyphen: