Paralogue Annotation for RYR1 residue 4907

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4907
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4907

No paralogue variants have been mapped to residue 4907 for RYR1.

RYR1	CDDMMTCYLFHMYVGVRAGGGIGDEIEDPA>G<DEYELYRVVFDITFFFFVIVILLAIIQGLI	4937
RYR2	CDDMLTCYMFHMYVGVRAGGGIGDEIEDPA>G<DEYEIYRIIFDITFFFFVIVILLAIIQGLI	4866
RYR3	CDDMMTCYLFHMYVGVRAGGGIGDEIEDPA>G<DPYEMYRIVFDITFFFFVIVILLAIIQGLI	4769
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G4907S	c.14719G>A	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		[Hot spot mutation screening of RYR1 gene in diagnosis of congenital myopathies]. Beijing Da Xue Xue Bao. 2014 46(5):691-7. 25331388