Paralogue Annotation for RYR1 residue 3751

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3751
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3751

No paralogue variants have been mapped to residue 3751 for RYR1.

RYR1	LYMAYADIMAKSCHLEEGGENGEAEEEVEV>S<FEEKQMEKQRLLYQQARLHTRGAAEMVLQM	3781
RYR2	LYMAYADIMAKSCHDEED-D--DGEEE-VK>S<FEEKEMEKQKLLYQQARLHDRGAAEMVLQT	3743
RYR3	LYTSYSSMMAKSCQSGED-E--EEDEDKEK>T<FEEKEMEKQKTLYQQARLHERGAAEMVLQM	3633
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S3751P	c.11251T>C	Putative Benign		rs201803539	SIFT: Polyphen: benign