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Last update

21/6/2017

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

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
France	NA	NA	1 family	NA	Tredano 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

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: surfactant protein B; SFTPB

References