Paralogue Annotation for RYR1 residue 4112

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4112
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4112

No paralogue variants have been mapped to residue 4112 for RYR1.

RYR1	DPRGLISKKDFQKAMDSQKQFSGPEIQFLL>S<CSEADENEMINCEEFANRFQEPARDIGFNV	4142
RYR2	DGKGVISKRDFHKAMESHKHYTQSETEFLL>S<CAETDENETLDYEEFVKRFHEPAKDIGFNV	4098
RYR3	DGKGIISKKEFQKAMEGQKQYTQSEIDFLL>S<CAEADENDMFNYVDFVDRFHEPAKDIGFNV	3994
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S4112L	c.12335C>T	Other Myopathy		rs193922847	SIFT: Polyphen:
Reports		Other Myopathy		Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord. 2007 17(4):338-45. 17376685