Paralogue Annotation for RYR1 residue 3860

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3860
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3860

No paralogue variants have been mapped to residue 3860 for RYR1.

RYR1	SIQALMQTCSVLDLNAFERQNKAEGLGMVN>E<DGTVINRQNGEKVMADDEFTQDLFRFLQLL	3890
RYR2	SLAGLMQSCSVLDLNAFERQNKAEGLGMVT>E<EGS------GEKVLQDDEFTCDLFRFLQLL	3846
RYR3	SLSGLMQSCSVLDLNAFERQNKAEGLGMVT>E<EGTLIVRERGEKVLQNDEFTRDLFRFLQLL	3742
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3860K	c.11578G>A	Putative Benign		rs199737015	SIFT: Polyphen: benign