Paralogue Annotation for RYR2 residue 2375

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2375
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2375

No paralogue variants have been mapped to residue 2375 for RYR2.

RYR2	AMEEAIKIAEDPSRDGPSPNS-GSSKTLDT>E<EEEDDTIHMGNAIMTFYSALIDLLGRCAPE	2405
RYR1	AIEEAIRISEDPARDGPGIRRDRRREHFGE>E<PPEENRVHLGHAIMSFYAALIDLLGRCAPE	2439
RYR3	AMQGAIKISENPALDLPSQGY-KREVSTGD>D<EEEEEIVHMGNAIMSFYSALIDLLGRCAPE	2302
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2375K	c.7123G>A	Putative Benign			SIFT: Polyphen: