Table 1.
Novel rare mutations (<1 %) identified in DVL2 and DVL3 in human cohorts
| Mutation | AA change | Patients (473) | Controlsa (150) | Polyphenb | SIFTc | Domain |
|---|---|---|---|---|---|---|
| DVL2 rare mutations | ||||||
| Potentially damaging variants | ||||||
| c.158C>T | p.Ala53Vald | 1 | 0 | − | + | DIX |
| c.1073C>T | p.Ser358Phe | 1 | 1 | + | + | Proline-rich region |
| c.1801_1802insG | p.Glu620X | 1 | 0 | N/A | N/A | C-terminal |
| c.2000A>G | p.Tyr667Cys | 1 | 0 | − | + | C-terminal |
| Benign variants | ||||||
| c.332C>T | p.Ala111Val | 1 | 0 | − | − | Polypeptide linker |
| c.1786C>T | p.Arg596Trp | 1 | 0 | − | − | C-terminal |
| Total | 6 | 1 | ||||
| DVL3 rare mutations | ||||||
| Potentially damaging variants | ||||||
| c.523A>G | p.Ser175Glye | 0 | 1 | ++ | + | Polypeptide linker |
| Benign variants | ||||||
| c.1057A>G | p.Ile353Val | 1 | 0 | − | − | Polypeptide linker |
| c.1147A>G | p.Ile384Val | 1 | 0 | − | − | Polypeptide linker |
| c.1921G>A | p.Ala641Thr | 1 | 0 | − | − | C-terminal |
| Total | 3 | 1 | ||||
| DVL2 + DVL3 variants | 9 | 2 | ||||
AA amino acid, Polyphen polymorphism phenotyping software, SIFT Sorting Intolerant from Tolerant software
aAll the nonsynonymous variants identified in patients were genotyped in 639 controls
bPolyphen predictions for amino acid changes: “++” for probably damaging “+” for possibly damaging; “−” for benign
cSIFT predictions for amino acid changes: “+” predicted to affect protein function; “−” predicted to be tolerated
dThe variant is present in database as rs149736410
eThe variant is present in database as rs149103009