Research Article
Mutations in the ARAP3 Gene in Three Families with Primary Lymphedema Negative for Mutations in Known Lymphedema-Associated Genes
Table 2
Clinical features of the probands.
| | Sex | Age | Clinical features | Age of onset | Family history | Computational prediction | Variant nomenclature |
| | M | 32 | Left lower limb and scrotal lymphedema | 25 | No | Pathogenic predictions from FATHMM-MKL, MutationAssessor, and MutationTaster | NM_022481.5:c.2054G>A
NP_071926.4:p.Cys685Tyr | | F | 58 | Left lower limb lymphedema | 39 | No | Pathogenic predictions from DANN and SIFT | NM_022481.5:c.301G>A
NP_071926.4:p.Val101Met | | M | 59 | Right lower limb edema, foot edema | 49 | No | No pathogenic predictions | NM_022481.5:c.4433G>A
NP_071926.4:p.Arg1478Gln |
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