Table 2 Structural and functional changes in the PPR protein upon mutation
From: Identification of a novel PTH1R variant in a family with primary failure of eruption
start (aa) | end (aa) | feature | details | Â |
|---|---|---|---|---|
441 | 463 | TRANSMEM | Helical; Name = 7; (Potential). | lost |
464 | 593 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) |
471 | 471 | CONFLICT | K -> N (in Ref.2). | might get lost (downstream of altered splice site) |
473 | 473 | CONFLICT | S -> C (in Ref.2). | might get lost (downstream of altered splice site) |
474 | 474 | MUTAGEN | W->A: Strongly reduced interaction with G protein subunits GNB1 and GNG2; when associated with A-477. | might get lost (downstream of altered splice site) |
474 | 477 | MOTIF | Important for interaction with G proteins. | might get lost (downstream of altered splice site) |
477 | 477 | MUTAGEN | W->A: Strongly reduced interaction with G protein subunits GNB1 and GNG2; when associated with A-474. | might get lost (downstream of altered splice site) |