Paralogue Annotation for RYR1 residue 4927

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4927
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4927

No paralogue variants have been mapped to residue 4927 for RYR1.

RYR1	GIGDEIEDPAGDEYELYRVVFDITFFFFVI>V<ILLAIIQGLIIDAFGELRDQQEQVKEDMET	4957
RYR2	GIGDEIEDPAGDEYEIYRIIFDITFFFFVI>V<ILLAIIQGLIIDAFGELRDQQEQVKEDMET	4886
RYR3	GIGDEIEDPAGDPYEMYRIVFDITFFFFVI>V<ILLAIIQGLIIDAFGELRDQQEQVREDMET	4789
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V4927F	c.14779G>T	Other Myopathy		rs193922892	SIFT: Polyphen:
Reports		Other Myopathy		Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
p.V4927I	c.14779G>A	Putative Benign			SIFT: Polyphen: