Paralogue Annotation for RYR2 residue 991

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 991
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 991

No paralogue variants have been mapped to residue 991 for RYR2.

RYR2	VKKMKLPKNYQLTSGYKPAPMDLSFIKLTP>S<QEAMVDKLAENAHNVWARDRIRQGWTYGIQ	1021
RYR1	LKKTKLPKTYMMSNGYKPAPLDLSHVRLTP>A<QTTLVDRLAENGHNVWARDRVGQGWSYSAV	1009
RYR3	LKKVKLPKNYMMSNGYKPAPLDLSDVKLLP>P<QEILVDKLAENAHNVWAKDRIKQGWTYGIQ	1008
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S991L	c.2972C>T	Putative Benign			SIFT: Polyphen: