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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