Paralogue Annotation for RYR1 residue 4136

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4136
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4136

No paralogue variants have been mapped to residue 4136 for RYR1.

RYR1	EIQFLLSCSEADENEMINCEEFANRFQEPA>R<DIGFNVAVLLTNLSEHVPHDPRLHNFLELA	4166
RYR2	ETEFLLSCAETDENETLDYEEFVKRFHEPA>K<DIGFNVAVLLTNLSEHMPNDTRLQTFLELA	4122
RYR3	EIDFLLSCAEADENDMFNYVDFVDRFHEPA>K<DIGFNVAVLLTNLSEHMPNDSRLKCLLDPA	4018
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R4136S	c.12406C>A	Other Myopathy		rs193922849	SIFT: Polyphen:
Reports		Other Myopathy		Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region. Cell Calcium. 2002 32(3):143-51. 12208234
p.R4136H	c.12407G>A	Putative Benign			SIFT: deleterious Polyphen: benign