Paralogue Annotation for RYR1 residue 126

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 126
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 126

No paralogue variants have been mapped to residue 126 for RYR1.

RYR1	GHRTLLYGHAILLRHAHSRMYLSCLTTSRS>M<TDKLAFDVGLQEDATGEACWWTMHPASKQR	156
RYR2	GHRTLLYGHAILLRHSYSGMYLCCLSTSRS>S<TDKLAFDVGLQEDTTGEACWWTIHPASKQR	169
RYR3	GHRTLLYGHAVLLRHSFSGMYLTCLTTSRS>Q<TDKLAFDVGLREHATGEACWWTIHPASKQR	159
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M126V	c.376A>G	Putative Benign		rs146065960	SIFT: Polyphen: benign