Table 3 UMOD mutation characteristics
Mutation | Exon | Protein alteration | Wake Forest Registry | HGMD | Polyphen | SIFT | 1KG | ESP | ExAC |
|---|---|---|---|---|---|---|---|---|---|
c.184A > Ca | 3 | p.(Thr62Pro) [34] | Yesa | No | 0.662 | 0.030.03 0. | – | 0.0006.006 | 0.0004 |
c.202G > A | 3 | p.(Glu68Lys) [34] | Yes | No | 0.999 | 0 | – | – | – |
c.263G > T | 3 | p.(Gly88Val) | No | No | 1 | 0 | – | – | – |
c.272-274del | 3 | p.(Ser91del) [34] | Yes | No | – | – | – | ||
c.278_289delinsCCGCCTCCT | 3 | p.(Val93_Gly97delins AlaAlaSerCys) [42] | Yes | Yes | – | – | – | ||
c.443G > A | 3 | p.(Cys148Tyr) [10] | Yes | Yes | 1 | 0.31 | – | – | – |
c.614 T > C | 3 | p.(Phe205Ser) | No | No | 1 | 0 | – | – | – |
c.629G > A | 3 | p.(Gly210Asp) [34] | Yes | No | 1 | 0 | – | – | – |
c.688 T > C | 3 | p.(Trp230Arg) [43] | Yes | Yes | 1 | 0 | – | – | – |
c.860G > A | 3 | p.(Cys287Tyr) | No | No | 1 | 0 | – | – | – |
c.917G > A | 4 | p.(Cys306Tyr) [34] | Yes | No | 1 | 0 | – | – | – |