Paralogue Annotation for RYR1 residue 1954

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1954
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1954

No paralogue variants have been mapped to residue 1954 for RYR1.

RYR1	EGLLQMKLPESVKLQMCHLLEYFCDQELQH>R<VESLAAFAERYVDKLQANQRSRYGLLIKAF	1984
RYR2	EGLLQMKLPEPVKLQMCLLLQYLCDCQVRH>R<IEAIVAFSDDFVAKLQDNQRFRYNEVMQAL	1951
RYR3	KGLLQTRLPESVKLQMCELLSYLCDCELQH>R<VEAIVAFGDIYVSKLQANQKFRYNELMQAL	1852
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1954H	c.5861G>A	Putative Benign			SIFT: Polyphen: