Paralogue Annotation for RYR1 residue 4229

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4229
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4229

No paralogue variants have been mapped to residue 4229 for RYR1.

RYR1	TNRAQWEMPQVKESKRQFIFDVVNEGGEAE>K<MELFVSFCEDTIFEMQIAAQISEPEGEPET	4259
RYR2	SSRTQWEKPQVKESKRQFIFDVVNEGGEKE>K<MELFVNFCEDTIFEMQLAAQISESDLNERS	4215
RYR3	SSRTQWEKPQVKESKRQFIFDVVNEGGEQE>K<MELFVNFCEDTIFEMQLASQISESDSADRP	4111
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K4229N	c.12687G>T	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012 33(6):981-8. doi: 10.1002/humu.22056. 22473935
p.K4229R	c.12686A>G	Unknown			SIFT: Polyphen: benign