Paralogue Annotation for RYR2 residue 2205

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2205
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2205

No paralogue variants have been mapped to residue 2205 for RYR2.

RYR2	MVNVLGGGESKEITFPKMVANCCRFLCYFC>R<ISRQNQKAMFDHLSYLLENSSVGLASPAMR	2235
RYR1	MVNVLGGGESKEIRFPKMVTSCCRFLCYFC>R<ISRQNQRSMFDHLSYLLENSGIG--L-GMQ	2268
RYR3	MVNVLGT-EKSQIAFPKMVASCCRFLCYFC>R<ISRQNQKAMFEHLSYLLENSSVGLASPSMR	2132
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2205H	c.6614G>A	Putative Benign		rs370276573	SIFT: deleterious Polyphen: probably damaging