Paralogue Annotation for RYR1 residue 1318

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1318
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1318

No paralogue variants have been mapped to residue 1318 for RYR1.

RYR1	LRLSLPVQFHQHFRCTAGATPLAPPGLQPP>A<EDEARAAEPDPDYENLRRSAGGWSEAENGK	1348
RYR2	YRLSMPIECAEVFSKTV-AGGLPGAGLFGP>K<-NDLEDYDADSDFEVLMKTAHGHLVPDRVD	1360
RYR3	CRLSMPVECHSSFSH--------------->-<------------------------------	1302
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1318T	c.3952G>A	Putative Benign			SIFT: Polyphen: