Table 2. Known and predicted disease-associated missense variants in the PGM1 paralogs.
| PGM1 | PGM2 | PGM2L1 | PGM3 | PGM5 | |
|---|---|---|---|---|---|
| Domain 1 | |||||
| Patient variants: | T19A | ||||
| N38Y | R41L/H* | ||||
| Q41R(E/H) | |||||
| D62H | |||||
| T115A | |||||
| G121R(W) | |||||
| A139T | L83S | ||||
| Functional region variants: | A63V | ||||
| S165P | |||||
| H166D | |||||
| R178C* | |||||
| Domain 2 | |||||
| Patient variants: | G230E | ||||
| D239H | |||||
| H261D | Q291K | N246S | |||
| D263G/Y | |||||
| G291R | |||||
| Functional region variants: | D288G | D322N*/E | D332V | ||
| P323L^ | |||||
| D324H/G | D334E* | D295V* | |||
| Domain 3 | |||||
| Patient variants: | D297E | ||||
| G330R(S*) | |||||
| P336R | |||||
| T337M | |||||
| E377K | E435G | ||||
| F379L | |||||
| E388K | |||||
| Functional region variants: | F431L | ||||
| A432E | |||||
| G375V* | F433S | ||||
| F369I | |||||
| S383R | |||||
| I437T* | N372Y | ||||
| G380R* | G428E | ||||
| T386I | |||||
| Domain 4 | |||||
| Patient variants: | R422W(Q) | R427C/H* | |||
| C520Y | Q451R | ||||
| R503Q | R558C*/H^ | R496W* | R508W*/Q* | ||
| G508R | E563V | E501Q(G) | S513R^ | ||
| D502Y | |||||
| R515L/Q(W*) | R505Q | ||||
| L516P | |||||
| Functional region variants: | S505R | ||||
| G506S | G571R* | ||||
| G511R* | R516W* | ||||
Variants are tabulated according to protein domain (1–4) and by association with either patient mutations (top sub-sections) or key functional regions (bottom sub-sections). Matching residue positions for the five proteins were determined using the sequence alignment on Fig 1 and a 3D structural alignment (PDB IDs 5EPC and 2DKD). Confirmed disease-related variants of PGM1 and PGM3 are highlighted with red shading; predicted variants in ExAC that correspond to these are in yellow. Predicted dysfunctional variants occurring at the same residue position as a known disease-related variant are shown in parentheses. All missense variants from ExAc are singletons (found in a single individual; unmarked) or present at very low frequencies as marked: <1/10000 (*) or between 1/10000–0.001 (^).