Paralogue Annotation for RYR1 residue 4772

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4772
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4772

No paralogue variants have been mapped to residue 4772 for RYR1.

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

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I4772V	c.14314A>G	Putative Benign		rs371953926	SIFT: tolerated Polyphen: