Paralogue Annotation for RYR1 residue 2381

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2381
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2381

No paralogue variants have been mapped to residue 2381 for RYR1.

RYR1	NVVVRLLIRKPECFGPALRGEGGSGLLAAI>E<EAIRISEDPARDGPGIRRDRRREHFGEEPP	2411
RYR2	NVVVRLLIRRPECFGPALRGEGGNGLLAAM>E<EAIKIAEDPSRDGPSPNS-GSSKTLDTEEE	2377
RYR3	SVVVKLLIRRPECFGPALRGEGGNGLLAAM>Q<GAIKISENPALDLPSQGY-KREVSTGDDEE	2274
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2381K	c.7141G>A	Putative Benign		rs148426762	SIFT: Polyphen: possibly damaging