Paralogue Annotation for RYR2 residue 4701

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4701
Reference Amino Acid: I - Isoleucine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4701

No paralogue variants have been mapped to residue 4701 for RYR2.

RYR2	GMDKAALDFSDAREKKKPKKDSSLSAVLNS>I<DVKYQMWKLGVVFTDNSFLYLAWYMTMSVL	4731
RYR1	GMDLATLEITAHNER-KPNPPPGLLTWLMS>I<DVKYQIWKFGVIFTDNSFLYLGWYMVMSLL	4802
RYR3	GLDKNALDFSPVEET-KA-EAASLVSWLSS>I<DMKYHIWKLGVVFTDNSFLYLAWYTTMSVL	4634
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I4701V	c.14101A>G	Putative Benign			SIFT: Polyphen: