Paralogue Annotation for RYR1 residue 1614

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1614
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1614

No paralogue variants have been mapped to residue 1614 for RYR1.

RYR1	KNPAPQCPPRLEMQMLMPVSWSRMPNHFLQ>V<ETRRAGERLGWAVQCQEPLTMMALHIPEEN	1644
RYR2	KNPVPQCPPRLHVQFLSHVLWSRMPNQFLK>V<DVSRISERQGWLVQCLDPLQFMSLHIPEEN	1636
RYR3	KNPVPQCPPRLDVQTIQPVLWSRMPNSFLK>V<ETERVSERHGWVVQCLEPLQMMALHIPEEN	1540
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1614A	c.4841T>C	Putative Benign		rs78349583	SIFT: Polyphen: possibly damaging