Paralogue Annotation for RYR1 residue 1872

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1872
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1872

No paralogue variants have been mapped to residue 1872 for RYR1.

RYR1	LKLVSTLLVMGIFGDEDVKQILKMIEPEVF>T<EEEEEEDEEEEGEEEDEEEKEEDEEETAQE	1902
RYR2	IKLFYTLLIMGIFHNEDLKHILQLIEPSVF>K<EAATPEEESDTL--E-K---ELS----VDD	1872
RYR3	LKLIGTLLVMGVFDDDDVRQILLLIDPSVF>G<EHSAGTEEGAEK--E-E---VTQ----VEE	1776
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1872I	c.5615C>T	Putative Benign		rs373528296	SIFT: tolerated Polyphen: possibly damaging