Paralogue Annotation for RYR1 residue 1645

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1645
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1645

No paralogue variants have been mapped to residue 1645 for RYR1.

RYR1	ETRRAGERLGWAVQCQEPLTMMALHIPEEN>R<CMDILELSERLDLQRFHSHTLRLYRAVCAL	1675
RYR2	DVSRISERQGWLVQCLDPLQFMSLHIPEEN>R<SVDILELTEQEELLKFHYHTLRLYSAVCAL	1667
RYR3	ETERVSERHGWVVQCLEPLQMMALHIPEEN>R<CVDILELCEQEDLMRFHYHTLRLYSAVCAL	1571
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1645Q	c.4934G>A	Other Myopathy		rs193922778	SIFT: Polyphen: probably damaging
Reports		Other Myopathy		Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Hum Mutat. 2008 29(5):670-8. 18253926