Paralogue Annotation for RYR1 residue 4855

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4855
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4855

No paralogue variants have been mapped to residue 4855 for RYR1.

RYR1	RTILSSVTHNGKQLVMTVGLLAVVVYLYTV>V<AFNFFRKFYNKSEDEDEPDMKCDDMMTCYL	4885
RYR2	RTILSSVTHNGKQLVLTVGLLAVVVYLYTV>V<AFNFFRKFYNKSEDGDTPDMKCDDMLTCYM	4814
RYR3	RTILSSVTHNGKQLVLTVGLLAVVVYLYTV>V<AFNFFRKFYNKSEDDDEPDMKCDDMMTCYL	4717
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V4855L	c.14563G>T	Putative Benign			SIFT: tolerated Polyphen: possibly damaging