Paralogue Annotation for RYR1 residue 1964

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1964
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1964

No paralogue variants have been mapped to residue 1964 for RYR1.

RYR1	SVKLQMCHLLEYFCDQELQHRVESLAAFAE>R<YVDKLQANQRSRYGLLIKAFSMTAAETARR	1994
RYR2	PVKLQMCLLLQYLCDCQVRHRIEAIVAFSD>D<FVAKLQDNQRFRYNEVMQALNMSAALTARK	1961
RYR3	SVKLQMCELLSYLCDCELQHRVEAIVAFGD>I<YVSKLQANQKFRYNELMQALNMSAALTARK	1862
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1964C	c.5890C>T	Putative Benign		rs145801146	SIFT: Polyphen: benign
p.R1964H	c.5891G>A	Putative Benign			SIFT: Polyphen: