Paralogue Annotation for RYR1 residue 1176

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1176
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1176

No paralogue variants have been mapped to residue 1176 for RYR1.

RYR1	DVVGCMIDLTENTIIFTLNGEVLMSDSGSE>T<AFREIEIGDGFLPVCSLGPGQVGHLNLGQD	1206
RYR2	DVVGCMVDMNEHTMMFTLNGEILLDDSGSE>L<AFKDFDVGDGFIPVCSLGVAQVGRMNFGKD	1220
RYR3	DVVGCMINLDDASMIFTLNGELLITNKGSE>L<AFADYEIENGFVPICCLGLSQIGRMNLGTD	1206
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1176I	c.3527C>T	Putative Benign			SIFT: tolerated Polyphen: benign