Paralogue Annotation for RYR1 residue 4137

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4137
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4137

No paralogue variants have been mapped to residue 4137 for RYR1.

RYR1	IQFLLSCSEADENEMINCEEFANRFQEPAR>D<IGFNVAVLLTNLSEHVPHDPRLHNFLELAE	4167
RYR2	TEFLLSCAETDENETLDYEEFVKRFHEPAK>D<IGFNVAVLLTNLSEHMPNDTRLQTFLELAE	4123
RYR3	IDFLLSCAEADENDMFNYVDFVDRFHEPAK>D<IGFNVAVLLTNLSEHMPNDSRLKCLLDPAE	4019
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D4137N	c.12409G>A	Putative Benign		rs200312759	SIFT: Polyphen: benign
p.D4137E	c.12411C>G	Putative Benign			SIFT: Polyphen: