Paralogue Annotation for RYR1 residue 3674

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3674
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3674

No paralogue variants have been mapped to residue 3674 for RYR1.

RYR1	LPTHRACNMFLESYKAAWILTEDHSFEDRM>I<DDLSKAGEQEEEEEEVEEKKPDPLHQLVLH	3704
RYR2	LPRHRAVNLFLQGYEKSWIETEEHYFEDKL>I<EDLAKPG-AEPPEEDEGTKRVDPLHQLILL	3670
RYR3	LPRHRSINLFLHGYQRFWIETEEYSFEEKL>V<QDLAKSPKVEEEEEEETEKQPDPLHQIILY	3559
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3674T	c.11021T>C	Putative Benign			SIFT: Polyphen: