Paralogue Annotation for RYR2 residue 1716

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1716
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1716

No paralogue variants have been mapped to residue 1716 for RYR2.

RYR2	LYAIENKYMPGLLRAGYYDLLIDIHLSSYA>T<ARLMMNNEYIVPMTEETKSITLFPD-----	1741
RYR1	LHALEDAHLPGPLRAGYYDLLISIHLESAC>R<SRRSMLSEYIVPLTPETRAITLFPPGRSTE	1754
RYR3	FYAIDNKYLPGLLRSGFYDLLISIHLASAK>E<RKLMMKNEYIIPITSTTRNIRLFPD-----	1645
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1716S	c.5146A>T	Putative Benign			SIFT: Polyphen: