Paralogue Annotation for RYR1 residue 4811

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4811
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4811

No paralogue variants have been mapped to residue 4811 for RYR1.

RYR1	FGVIFTDNSFLYLGWYMVMSLLGHYNNFFF>A<AHLLDIAMGVKTLRTILSSVTHNGKQLVMT	4841
RYR2	LGVVFTDNSFLYLAWYMTMSVLGHYNNFFF>A<AHLLDIAMGFKTLRTILSSVTHNGKQLVLT	4770
RYR3	LGVVFTDNSFLYLAWYTTMSVLGHYNNFFF>A<AHLLDIAMGFKTLRTILSSVTHNGKQLVLT	4673
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A4811T	c.14431G>A	Other Myopathy			SIFT: Polyphen: