Paralogue Annotation for RYR2 residue 2353

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2353
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2353

No paralogue variants have been mapped to residue 2353 for RYR2.

RYR2	LLIRRPECFGPALRGEGGNGLLAAMEEAIK>I<AEDPSRDGPSPNS-GSSKTLDTEEEEDDTI	2382
RYR1	LLIRKPECFGPALRGEGGSGLLAAIEEAIR>I<SEDPARDGPGIRRDRRREHFGEEPPEENRV	2416
RYR3	LLIRRPECFGPALRGEGGNGLLAAMQGAIK>I<SENPALDLPSQGY-KREVSTGDDEEEEEIV	2279
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I2353V	c.7057A>G	Putative Benign		rs375356774	SIFT: deleterious Polyphen: probably damaging