Paralogue Annotation for RYR1 residue 3867

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3867
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3867

No paralogue variants have been mapped to residue 3867 for RYR1.

RYR1	TCSVLDLNAFERQNKAEGLGMVNEDGTVIN>R<QNGEKVMADDEFTQDLFRFLQLLCEGHNND	3897
RYR2	SCSVLDLNAFERQNKAEGLGMVTEEGS--->-<--GEKVLQDDEFTCDLFRFLQLLCEGHNSD	3853
RYR3	SCSVLDLNAFERQNKAEGLGMVTEEGTLIV>R<ERGEKVLQNDEFTRDLFRFLQLLCEGHNSD	3749
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3867C	c.11599C>T	Putative Benign		rs138593495	SIFT: Polyphen: benign
p.R3867H	c.11600G>A	Putative Benign			SIFT: Polyphen: