Table 3 Mutations characteristics
From: Novel folliculin gene mutations in Polish patients with Birt–Hogg–Dubé syndrome
Family | Patient | Mutation | Exon | Genotype | Genotype compatible with HGVS v.2 (on the level of cDNA) | Genotype compatible with HGVS v.2 (on the level of protein) |
|---|---|---|---|---|---|---|
1 | 1.1 | c40delC | 4 | His14fsTrfsTer41/− | NM_144997:c40delC | NP_659434.2: p[His14fsTrfsTer41] |
2 | 2.1 | c.490delA | 6 | Arg164GlyTer13/− | NM_144997.5: c[490delA] | NP_659434.2: p[Arg164GlyTer13] |
2.2 | ||||||
2.3 | ||||||
3 | 3.1 | c.499C > T | 6 | p.Glyn167Ter/− | NM_144997.5: c.[499C > T] | NP_659434.2: p[Gln167Ter] |
4 | 4.1 | c.469_471delTTC | 6 | c.469_471delTTC/− | NM_144997.5: c.[469_471delTTC] | NP_659434.2: p.[Phe157del] |
5 | 5.1 | c.1285delC | 11 | p.His429TherTer39 | NM_144997.5:c.1285delC | NP_659434.2: p.[His429TherTer39] |
5.2 | ||||||
6 | 6.1 | |||||
7 | 7.1 | |||||
8 | 8.1 | c.1522_1524 delAAG | 13 | p.Lys508del/− | NM_144997.5: c.[1522_1524delAAG] | NP_659434.2: p.[.Lys508del] |
8.2 | ||||||
9 | 9.1 | c490delA | 6 | Arg164GlyTer13/− | NM_144997.5: c[490delA] | NP_659434.2: p[Arg164GlyTer13] |
10 | 10.1 | c987delC | 9 | Ser330fs | NM_144997: c[987delC] | NP_659434.2: p[Ser330fs] |
10.2 |