Nucleotide change* | Exon/intron | Amino acid change† | Protein domain | Sex | Familial (F)/ de novo (D) | Origin | Age of onset | Virus infection at onset | Outcome |
c.116T>C | Exon 2 | p.Val39Ala (V39A) | Mature SP-C | F | ? | African | 4 months | Yes | ILD |
c.325-1G>A | Intron 3 | – | BRICHOS | M | D | North African | Birth | Yes | ILD |
c.424delC | Exon 4 | p.His142fs | BRICHOS | M | D | North African | Birth | Yes | ILD |
c.435G>C | Exon 4 | p.Gln145His (Q145H) | BRICHOS | F | ? | Reunion Island | 1 month | No | ILD§ |
c.563T>C | Exon 5 | p.Leu188Pro (L188P) | BRICHOS | M | ? | European | 2 months | No | ILD |
c.566G>A | Exon 5 | p.Cys189Tyr (C189Y) | BRICHOS | M‡ | F | European | Birth | No | ILD |
c.566G>A | Exon 5 | p.Cys189Tyr (C189Y) | BRICHOS | F‡ | F | European | Birth | No | ILD |
c.581T>C | Exon 5 | p.Leu194Pro (L194P) | BRICHOS | M | F | European | 2 months | Yes | ILD |
ILD, interstitial lung disease; M/F, male/female
*Numbering relative to coding DNA reference sequence NM_003018.3 and starts at translation initiation site (ATG). †Numbering relative to NP_003009.2. ‡Twins. §Death at 3 months.