Paralogue Annotation for RYR1 residue 3916

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3916
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3916

No paralogue variants have been mapped to residue 3916 for RYR1.

RYR1	FLQLLCEGHNNDFQNYLRTQTGNTTTINII>I<CTVDYLLRLQESISDFYWYYSGKDVIEEQG	3946
RYR2	FLQLLCEGHNSDFQNYLRTQTGNNTTVNII>I<STVDYLLRVQESISDFYWYYSGKDVIDEQG	3902
RYR3	FLQLLCEGHNSDFQNFLRTQMGNTTTVNVI>I<STVDYLLRLQESISDFYWYYSGKDIIDESG	3798
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3916M	c.11748T>G	Other Myopathy		rs193922840	SIFT: Polyphen:
Reports		Other Myopathy		Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility. Anesthesiology. 2002 97(5):1067-74. 12411788
p.I3916V	c.11746A>G	Putative Benign			SIFT: Polyphen: