Paralogue Annotation for RYR1 residue 4319

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4319
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4319

No paralogue variants have been mapped to residue 4319 for RYR1.

RYR1	AAAGATARVVAAAGRALRGLSYRSLRRRVR>R<LRRLTAREAATAVAALLWAAVTRAGAAGAG	4349
RYR2	TVRSALFALRYNILTLMRMLSLKSLKKQMK>K<VKKMTVKDMVTAFFSSYWSIFMTLLHFVAS	4300
RYR3	AFAMACASVKRNVTDFLKRATLKNLRKQYR>N<VKKMTAKELVKVLFSFFWMLFVGLFQLLFT	4201
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R4319Q	c.12956G>A	Putative Benign			SIFT: tolerated Polyphen: