Paralogue Annotation for RYR1 residue 3874

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3874
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3874

No paralogue variants have been mapped to residue 3874 for RYR1.

RYR1	NAFERQNKAEGLGMVNEDGTVINRQNGEKV>M<ADDEFTQDLFRFLQLLCEGHNNDFQNYLRT	3904
RYR2	NAFERQNKAEGLGMVTEEGS------GEKV>L<QDDEFTCDLFRFLQLLCEGHNSDFQNYLRT	3860
RYR3	NAFERQNKAEGLGMVTEEGTLIVRERGEKV>L<QNDEFTRDLFRFLQLLCEGHNSDFQNFLRT	3756
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M3874V	c.11620A>G	Putative Benign			SIFT: Polyphen: