Paralogue Annotation for RYR1 residue 3324

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3324
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3324

No paralogue variants have been mapped to residue 3324 for RYR1.

RYR1	SALPAGAPPPCTAVTSDHLNSLLGNILRII>V<NNLGIDEASWMKRLAVFAQPIVSRARPELL	3354
RYR2	E----RAEMCCTALNSEHMNTLLGNILKII>Y<NNLGIDEGAWMKRLAVFSQPIINKVKPQLL	3315
RYR3	P----STGPCCTKVTSEHLSLILGNILKII>N<NNLGIDEASWMKRIAVYAQPIISKARPDLL	3211
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V3324A	c.9971T>C	Putative Benign		rs141515745	SIFT: Polyphen: benign
p.V3324I	c.9970G>A	Putative Benign			SIFT: Polyphen: