Paralogue Annotation for RYR1 residue 1745

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1745
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1745

No paralogue variants have been mapped to residue 1745 for RYR1.

RYR1	ISIHLESACRSRRSMLSEYIVPLTPETRAI>T<LFPPGRSTENGHPRHGLPGVGVTTSLRPPH	1775
RYR2	IDIHLSSYATARLMMNNEYIVPMTEETKSI>T<LFPD------ENKKHGLPGIGLSTSLRPRM	1761
RYR3	ISIHLASAKERKLMMKNEYIIPITSTTRNI>R<LFPD------ESKRHGLPGVGLRTCLKPGF	1665
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1745M	c.5234C>T	Putative Benign		rs377476955	SIFT: tolerated Polyphen: probably damaging
p.Thr1745Arg	c.5234C>G	Unknown			SIFT: Polyphen: