Table 3 Allelic variants identified in the EDAR gene
Family | Gender | NM | Exon/Intron | Protein | Affected domain | NM | Exon/Intron | Protein | Affected domain | Origin | Clinical Diagnosis | HGMD (*) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
5 | M | c.52-2A > G | Intron 2 | (−) | Protein disruption | c.212G > A | Exon 4 | p.Cys71Tyr | TNF Receptor | Inherited/Inherited | HED | [3] |
18 | M | c.1072C > T | Exon 9 | p.Arg358* | Death domain | (−) | (−) | (−) | (−) | Inherited | HED | [26] |
42 | M | c.1073G > A | Exon 9 | p.Arg358Gln | Death domain | (−) | (−) | (−) | (−) | Inherited | HED | [23] |
12 | F | c.1259G > A | Exon 12 | p.Arg420Gln | Death domain | (−) | (−) | (−) | (−) | Inherited | HED | [26] |