Paralogue Annotation for RYR2 residue 4216

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4216
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4216

No paralogue variants have been mapped to residue 4216 for RYR2.

RYR2	MELFVNFCEDTIFEMQLAAQISESDLNERS>A<NKEESEK-----ERPEEQGPRMAFFSILTV	4241
RYR1	MELFVSFCEDTIFEMQIAAQISEPEGEPET>D<EDEGAGAAEAGAEGAEEGAAGLEGTAATAA	4290
RYR3	MELFVNFCEDTIFEMQLASQISESDSADRP>E<EEEEDEDSSYVLEIAGEEEEDGSLEPASAF	4142
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A4216V	c.12647C>T	Putative Benign		rs375950722	SIFT: tolerated Polyphen: benign