Paralogue Annotation for RYR1 residue 4824

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4824
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4824

No paralogue variants have been mapped to residue 4824 for RYR1.

RYR1	GWYMVMSLLGHYNNFFFAAHLLDIAMGVKT>L<RTILSSVTHNGKQLVMTVGLLAVVVYLYTV	4854
RYR2	AWYMTMSVLGHYNNFFFAAHLLDIAMGFKT>L<RTILSSVTHNGKQLVLTVGLLAVVVYLYTV	4783
RYR3	AWYTTMSVLGHYNNFFFAAHLLDIAMGFKT>L<RTILSSVTHNGKQLVLTVGLLAVVVYLYTV	4686
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L4824P	c.14471T>C	Other Myopathy		rs193922874	SIFT: Polyphen:
Reports		Other Myopathy		RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene. J Med Genet. 2004 41(3):e33. 14985404