Paralogue Annotation for RYR1 residue 330

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 330
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 330

No paralogue variants have been mapped to residue 330 for RYR1.

RYR1	ASKAHTKATSFCFRI---SKEKLDVAPKRD>V<EGMGPPEIKYGESLCFVQHVASGLWLTYAA	360
RYR2	KEKADVKSTAFTFRS---SKEKLDVGVRKE>V<DGMGTSEIKYGDSVCYIQHVDTGLWLTYQS	376
RYR3	RAKSDTKSTAFSFRASKELKEKLDSSHKRD>I<EGMGVPEIKYGDSVCFVQHIASGLWVTYKA	368
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V330M	c.988G>A	Putative Benign		rs150562985	SIFT: Polyphen: probably damaging