Paralogue Annotation for RYR1 residue 4702

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4702
Reference Amino Acid: W - Tryptophan
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4702

No paralogue variants have been mapped to residue 4702 for RYR1.

RYR1	FKREKELARKLEFDGLYITEQPEDDDVKGQ>W<DRLVLNTPSFPSNYWDKFVKRKVLDKHGDI	4732
RYR2	FKREKEVARKLEFDGLYITEQPSEDDIKGQ>W<DRLVINTQSFPNNYWDKFVKRKVMDKYGEF	4660
RYR3	FKREKEIARKLEFDGLYITEQPSEDDIKGQ>W<DRLVINTPSFPNNYWDKFVKRKVINKYGDL	4565
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.W4702C	c.14106G>C	Putative Benign		rs367605058	SIFT: deleterious Polyphen: