Paralogue Annotation for RYR1 residue 3908

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3908
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3908

No paralogue variants have been mapped to residue 3908 for RYR1.

RYR1	EFTQDLFRFLQLLCEGHNNDFQNYLRTQTG>N<TTTINIIICTVDYLLRLQESISDFYWYYSG	3938
RYR2	EFTCDLFRFLQLLCEGHNSDFQNYLRTQTG>N<NTTVNIIISTVDYLLRVQESISDFYWYYSG	3894
RYR3	EFTRDLFRFLQLLCEGHNSDFQNFLRTQMG>N<TTTVNVIISTVDYLLRLQESISDFYWYYSG	3790
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N3908I	c.11723A>T	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study. Orphanet J Rare Dis. 2014 9(1):8. doi: 10.1186/1750-1172-9-8. 24433488
p.N3908S	c.11723A>G	Putative Benign		rs141803364	SIFT: Polyphen: benign