Paralogue Annotation for RYR1 residue 326

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 326
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 326

No paralogue variants have been mapped to residue 326 for RYR1.

RYR1	VVVDASKAHTKATSFCFRI---SKEKLDVA>P<KRDVEGMGPPEIKYGESLCFVQHVASGLWL	356
RYR2	LLMDKEKADVKSTAFTFRS---SKEKLDVG>V<RKEVDGMGTSEIKYGDSVCYIQHVDTGLWL	372
RYR3	ILQDRAKSDTKSTAFSFRASKELKEKLDSS>H<KRDIEGMGVPEIKYGDSVCFVQHIASGLWV	364
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P326L	c.977C>T	Putative Benign			SIFT: Polyphen: