Paralogue Annotation for RYR1 residue 1957

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1957
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1957

No paralogue variants have been mapped to residue 1957 for RYR1.

RYR1	LQMKLPESVKLQMCHLLEYFCDQELQHRVE>S<LAAFAERYVDKLQANQRSRYGLLIKAFSMT	1987
RYR2	LQMKLPEPVKLQMCLLLQYLCDCQVRHRIE>A<IVAFSDDFVAKLQDNQRFRYNEVMQALNMS	1954
RYR3	LQTRLPESVKLQMCELLSYLCDCELQHRVE>A<IVAFGDIYVSKLQANQKFRYNELMQALNMS	1855
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1957T	c.5869T>A	Other Myopathy		rs192932788	SIFT: Polyphen:
Reports		Other Myopathy		Distal lipid storage myopathy due to PNPLA2 mutation. Neuromuscul Disord. 2008 18(8):671-4. 18657972