Table 2.
Identified PALB2 variants
| Variant type | PALB2 cDNA change | PALB2 protein change | Number observed | Prediction programs
|
||
|---|---|---|---|---|---|---|
| PolyPhen | SIFT | PMut | ||||
| Novel variants | ||||||
| Mis | c.3128G > GC | p.1043G > AG | 1 | Possibly damaging | Affect protein function | Pathological |
| Mis | c.1222T > TC | p.Y408Y > YH | 1 | Possibly damaging | Tolerated | Neutral |
| Syn | c.1881G > GT | p.V627VV | 1 | N/A | N/A | N/A |
| Known variants | ||||||
| Mis | c.1010T > TCa | p.L337LS | 5 | Possibly damaging | Affect protein function | – |
| Mis | c.1676A > AGa | p.Q559QR | 16 | Benign | Tolerated | – |
| Mis | c.2014G > GCa | p.E672EQ | 2 | Benign | Affect protein function | – |
| Mis | c.2590C > CTa | p.P864PS | 3 | Probably Damaging | Tolerated | – |
| Mis | c.2794G > GAb | p.V932VM | 1 | Benign | Tolerated | – |
| Mis | c.2816T > TGa | p.L939LW | 1 | Possibly damaging | Affect protein function | – |
| Mis | c.2993G > GAa | p.G998GE | 1 | Probably damaging | Affect protein function | – |
| Syn | c.1194G > GAb | p.V398VV | 1 | N/A | Tolerated | N/A |
| Syn | c.1572A > AGb | p.S524SS | 1 | N/A | Tolerated | N/A |
| Syn | c.3300T > TGb | p.T1100TT | 2 | N/A | Tolerated | N/A |
Mis Missense variant, Syn synonymous variant, PolyPhen Polymorphism Phenotyping prediction (http://genetics.bwh.harvard.edu/pph), SIFT Sorting Intolerant From Tolerant (http://blocks.fhcrc.org/sift/SIFT_BLink_submit.html), PMut (http://mmb2.pcb.ub.es:8080/PMut)
a
Previously reported [26]
b
Previously reported [6]
N/A Not applicable
– Information not available