Paralogue Annotation for RYR1 residue 2380

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2380
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2380

No paralogue variants have been mapped to residue 2380 for RYR1.

RYR1	ANVVVRLLIRKPECFGPALRGEGGSGLLAA>I<EEAIRISEDPARDGPGIRRDRRREHFGEEP	2410
RYR2	ANVVVRLLIRRPECFGPALRGEGGNGLLAA>M<EEAIKIAEDPSRDGPSPNS-GSSKTLDTEE	2376
RYR3	ASVVVKLLIRRPECFGPALRGEGGNGLLAA>M<QGAIKISENPALDLPSQGY-KREVSTGDDE	2273
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I2380M	c.7140C>G	Putative Benign			SIFT: Polyphen: