Paralogue Annotation for RYR1 residue 1974

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1974
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1974

No paralogue variants have been mapped to residue 1974 for RYR1.

RYR1	EYFCDQELQHRVESLAAFAERYVDKLQANQ>R<SRYGLLIKAFSMTAAETARRTREFRSPPQE	2004
RYR2	QYLCDCQVRHRIEAIVAFSDDFVAKLQDNQ>R<FRYNEVMQALNMSAALTARKTKEFRSPPQE	1971
RYR3	SYLCDCELQHRVEAIVAFGDIYVSKLQANQ>K<FRYNELMQALNMSAALTARKTKEFRSPPQE	1872
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1974W	c.5920C>T	Putative Benign			SIFT: Polyphen:
p.R1974Q	c.5921G>A	Putative Benign			SIFT: Polyphen: