Paralogue Annotation for RYR1 residue 347

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 347
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 347

No paralogue variants have been mapped to residue 347 for RYR1.

RYR1	-SKEKLDVAPKRDVEGMGPPEIKYGESLCF>V<QHVASGLWLTYAAPDPKALRLGVLKKKAML	377
RYR2	-SKEKLDVGVRKEVDGMGTSEIKYGDSVCY>I<QHVDTGLWLTYQSVDVKSVRMGSIQRKAIM	393
RYR3	ELKEKLDSSHKRDIEGMGVPEIKYGDSVCF>V<QHIASGLWVTYKAQDAKTSRLGPLKRKVIL	385
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V347M	c.1039G>A	Putative Benign		rs138647682	SIFT: Polyphen: possibly damaging
p.V347L	c.1039G>C	Putative Benign			SIFT: Polyphen: