Gene: surfactant protein B; SFTPB


Gene Symbol: SFTPB
OMIM: 178640
Chromosome location: 2p11.2

Related informations:  NCBI Gene  Genome Browser  Ensembl  UniProt  GeneCards  Kyoto Encyclopedia  BioGPS  HGNC  HPRD  

Surfactant metabolism dysfunction, pulmonary, 1 || g.1549C>GAA (121ins2)

Phenotype:    Surfactant metabolism dysfunction, pulmonary, 1
Dna Change:    g.1549C>GAA (121ins2)
Protein Change:   
Mutation Type:    Insertion
Mutation Effect:    Frameshift
Location:    exon 4
Transcript:    NM_000542.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
FranceNANA1 familyNATredano M et al., 2006Tredano M, Cooper DN, Stuhrmann M, Christodoulou J, Chuzhanova NA, Roudot-Thoraval F, Boëlle PY, Elion J, Jeanpierre M, Feingold J, Couderc R, Bahuau M, . Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency.. Am. J. Med. Genet. A. 2006; 140(1):62-9

References

Tredano M, Cooper DN, Stuhrmann M, Christodoulou J, Chuzhanova NA, Roudot-Thoraval F, Boëlle PY, Elion J, Jeanpierre M, Feingold J, Couderc R, Bahuau M, Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency.Am. J. Med. Genet. A. 2006; 140(1):62-9