Paralogue Annotation for RYR1 residue 4862

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4862
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4862

No paralogue variants have been mapped to residue 4862 for RYR1.

RYR1	THNGKQLVMTVGLLAVVVYLYTVVAFNFFR>K<FYNKSEDEDEPDMKCDDMMTCYLFHMYVGV	4892
RYR2	THNGKQLVLTVGLLAVVVYLYTVVAFNFFR>K<FYNKSEDGDTPDMKCDDMLTCYMFHMYVGV	4821
RYR3	THNGKQLVLTVGLLAVVVYLYTVVAFNFFR>K<FYNKSEDDDEPDMKCDDMMTCYLFHMYVGV	4724
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K4862E	c.14584A>G	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. Neurol Genet. 2015 1(2):e14. doi: 10.1212/NXG.0000000000000015. eColl 27066551