Paralogue Annotation for RYR2 residue 4635

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4635
Reference Amino Acid: I - Isoleucine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4635

No paralogue variants have been mapped to residue 4635 for RYR2.

RYR2	EVARKLEFDGLYITEQPSEDDIKGQWDRLV>I<NTQSFPNNYWDKFVKRKVMDKYGEFYGRDR	4665
RYR1	ELARKLEFDGLYITEQPEDDDVKGQWDRLV>L<NTPSFPSNYWDKFVKRKVLDKHGDIYGRER	4737
RYR3	EIARKLEFDGLYITEQPSEDDIKGQWDRLV>I<NTPSFPNNYWDKFVKRKVINKYGDLYGAER	4570
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I4635M	c.13905C>G	Putative Benign			SIFT: Polyphen: