Paralogue Annotation for RYR2 residue 4357

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4357
Reference Amino Acid: A - Alanine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4357

No paralogue variants have been mapped to residue 4357 for RYR2.

RYR2	AELLANMPDPTQDEVRGDGEEGERKP-LEA>A<LPSEDLTDLKELTEESDLLSD-----IFGL	4382
RYR1	TELLAGMPDPTSDEVHGEQPAGPGGDADGE>G<ASEGAGDAAEGAGDEEEAVHEAGPGGADGA	4437
RYR3	TKILGDMPDPTQFGIHDDTMEAERAEVMEP>G<ITTELVHFIKGEKGDTDIMSD-----LFGL	4284
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A4357T	c.13069G>A	Putative Benign			SIFT: Polyphen: