Paralogue Annotation for RYR1 residue 4804

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4804
Reference Amino Acid: H - Histidine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4804

No paralogue variants have been mapped to residue 4804 for RYR1.

RYR1	VKYQIWKFGVIFTDNSFLYLGWYMVMSLLG>H<YNNFFFAAHLLDIAMGVKTLRTILSSVTHN	4834
RYR2	VKYQMWKLGVVFTDNSFLYLAWYMTMSVLG>H<YNNFFFAAHLLDIAMGFKTLRTILSSVTHN	4763
RYR3	MKYHIWKLGVVFTDNSFLYLAWYTTMSVLG>H<YNNFFFAAHLLDIAMGFKTLRTILSSVTHN	4666
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H4804Y	c.14410C>T	Other Myopathy		rs193922871	SIFT: Polyphen:
Reports		Other Myopathy		Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies. J Neuropathol Exp Neurol. 2007 66(1):57-65. 17204937