Paralogue Annotation for RYR1 residue 3088

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3088
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3088

No paralogue variants have been mapped to residue 3088 for RYR1.

RYR1	GTDAPAVVNCLHILARSLDARTVMKSGPEI>V<KAGLRSFFESASEDIEKMVENLRLGKVSQA	3118
RYR2	GNDATSIVNCLHILGQTLDARTVMKTGLES>V<KSALRAFLDNAAEDLEKTMENLKQGQFTHT	3083
RYR3	GSDSTTMVSCLHILAQTLDTRTVMKSGSEL>V<KAGLRAFFENAAEDLEKTSENLKLGKFTHS	2979
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V3088M	c.9262G>A	Putative Benign		rs145044872	SIFT: Polyphen: possibly damaging
p.V3088L	c.9262G>C	Putative Benign			SIFT: Polyphen: