Results for the protein: P07988

Results for the Protein: P07988

131418

6439

SFTPB

NCBI, UniProt

PSPB_HUMAN RecName: Full=Pulmonary surfactant-associated protein B; Short=SP-B; AltName: Full=18 kDa pulmonary-surfactant protein; AltName: Full=6 kDa protein; AltName: Full=Pulmonary surfactant-associated proteolipid SPL(Phe); Flags: Precursor

Known Diseases associated with this Protein:
PULMONARY SURFACTANT METABOLISM DYSFUNCTION 1 (SMDP1)

1

5

0

0

6

Tips:

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Default View: SAPA - smart00162 SapB - smart00741	Swiss-Prot Protein: P07988 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
SapB	smart00741	4.9e-23	67	143
SapB	smart00741	3.6e-11	206	277
SapB	smart00741	2e-16	297	366

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_006949	Polymorphism	p.ALA228ARG	N/A
Swiss-Prot	VAR_006950	Polymorphism	p.ALA228ILE	N/A
Swiss-Prot	VAR_036856	Disease	p.ARG236CYS	Pulmonary surfactant metabolism dysfunction 1 (SMDP1)
Swiss-Prot	VAR_013100	Polymorphism	p.ARG272HIS	N/A
Swiss-Prot	VAR_013099	Polymorphism	p.LEU176PHE	N/A
Swiss-Prot	VAR_006948	Polymorphism	p.THR131ILE	N/A

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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