Paralogue Annotation for RYR1 residue 979

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 979
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 979

No paralogue variants have been mapped to residue 979 for RYR1.

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

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A979V	c.2936C>T	Putative Benign			SIFT: Polyphen: