Paralogue Annotation for RYR1 residue 3142

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3142
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3142

No paralogue variants have been mapped to residue 3142 for RYR1.

RYR1	LGKVSQARTQVKGVGQNLTYTTVALLPVLT>T<LFQHIAQHQFGDDVILDDVQVSCYRTLCSI	3172
RYR2	QGQFTHTRNQPKGVTQIINYTTVALLPMLS>S<LFEHIGQHQFGEDLILEDVQVSCYRILTSL	3137
RYR3	LGKFTHSRTQIKGVSQNINYTTVALLPILT>S<IFEHVTQHQFGMDLLLGDVQISCYHILCSL	3033
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T3142S	c.9424A>T	Putative Benign			SIFT: Polyphen: