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