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Table 2 BHD/FSP mutations genotyped in Boston early-onset COPD study probands

From: Folliculin mutations are not associated with severe COPD

Name

Location

Effect

Disease

Sequence

c.235_238delTCGG [8]

Exon 4

Frame shift

FSP

GCAGCCCGGGGCCCAAAAAG [TCGG/-] ACATGTGCGAGGCAAGTGTC

c.630_631delAGinsC [1, 9]

Exon 7

Frame shift

BHD

GCATTTCAGGTGTTTGAGGC [AG/C]AGCAGTTTGGATGCCCACAG

c.923_950dup28bp [1, 9]

Exon 9

Frame shift

BHD

CTCTGAGGCTGAAGAGGAGG [AGAAAGCCCCTGTGTTGCCAGAGAGTAC/++]AGAAAGCCCCTGTGTTGCCA

c.943G>T [7]

Exon 9

p.Glu315X

FSP

AGAAAGCCCCTGTGTTGCCA [G/T]AGAGTACAGAAGGGCGGGAG

c.1278insC [1, 9, 21, 12, 11, 10, 13, 46]

Exon 11

Frame shift

BHD

GCACGTGCAGATCCCCCCCC [-/C] ACGTGCTCTCCTCAGGTGCG

c.1278delC [1, 9, 21]

Exon 11

Frame shift

BHD

CGCACGTGCAGATCCCCCCC [C/-] ACGTGCTCTCCTCAGGTGCG

c.1429C>T [7, 9]

Exon 12

p.Arg477X

FSP/BHD

GGAGCCCTGTAGCTGCAGAC [C/T] GAGGTGGGTGCCCCCAGGCA

  1. FSP = Familial Spontaneous Pneumothorax; BHD = Birt-Hogg-Dubé. Positions with reference to RefSeq accession number NM_144997. Nucleotide numbering uses the A of the ATG translation initiation start site as nucleotide +1.