Paralogue Annotation for RYR1 residue 3839

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3839
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3839

No paralogue variants have been mapped to residue 3839 for RYR1.

RYR1	AEVQQKMLDYLKDKKEVGFFQSIQALMQTC>S<VLDLNAFERQNKAEGLGMVNEDGTVINRQN	3869
RYR2	STVQQKMLDYLKEKKDVGFFQSLAGLMQSC>S<VLDLNAFERQNKAEGLGMVTEEGS------	3825
RYR3	AGVQQKMLDYLKEKKDAGFFQSLSGLMQSC>S<VLDLNAFERQNKAEGLGMVTEEGTLIVRER	3721
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S3839I	c.11516G>T	Putative Benign			SIFT: deleterious Polyphen: benign