Paralogue Annotation for RYR1 residue 327

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 327
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 327

No paralogue variants have been mapped to residue 327 for RYR1.

RYR1	VVDASKAHTKATSFCFRI---SKEKLDVAP>K<RDVEGMGPPEIKYGESLCFVQHVASGLWLT	357
RYR2	LMDKEKADVKSTAFTFRS---SKEKLDVGV>R<KEVDGMGTSEIKYGDSVCYIQHVDTGLWLT	373
RYR3	LQDRAKSDTKSTAFSFRASKELKEKLDSSH>K<RDIEGMGVPEIKYGDSVCFVQHIASGLWVT	365
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K327E	c.979A>G	Putative Benign			SIFT: Polyphen: possibly damaging