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UniProtKB/Swiss-Prot P11686: Variant p.Ile73Thr

Pulmonary surfactant-associated protein C
Gene: SFTPC
Variant information

Variant position:  73
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Isoleucine (I) to Threonine (T) at position 73 (I73T, p.Ile73Thr).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and hydrophobic (I) to medium size and polar (T)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Pulmonary surfactant metabolism dysfunction 2 (SMDP2) [MIM:610913]: A rare disease associated with progressive respiratory insufficiency and lung disease with a variable clinical course, due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. {ECO:0000269|PubMed:11991887, ECO:0000269|PubMed:15039969, ECO:0000269|PubMed:15293602, ECO:0000269|PubMed:15557112, ECO:0000269|PubMed:15572558}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In SMDP2; abnormal trafficking and accumulation of aberrantly processed proSPC within alveoli.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  73
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  197
The length of the canonical sequence.

Location on the sequence:   ALLMGLHMSQKHTEMVLEMS  I GAPEAQQRLALSEHLVTTAT
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         ALLMGLHMSQKHTEMVLEMSIG-APEAQQRLALSEHLVTTAT

                              ALLMGL-----------------------------------

Rhesus macaque                ALLMGLHMSQKHTEMVLEMSIG-APEAQQHLARSGHLVTTA

Mouse                         ALLMGLHMSQKHTEMVLEMSIG-APETQKRLAPSERADTIA

Rat                           ALLMGLHMSQKHTEMVLEMSIGGAPETQKRLALSEHTDTIA

Pig                           ALLMGL-----------------------------------

Bovine                        ALLMGLHMSQKHTEMVLEMSIT-GPEAQQRLALSERVGTTA

Rabbit                        ALLMGLHMSQKHTEMVLEMSIG-APEVQQRLALSEWAGTTA

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Propeptide 59 – 197


Literature citations

Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease.
Tredano M.; Griese M.; Brasch F.; Schumacher S.; de Blic J.; Marque S.; Houdayer C.; Elion J.; Couderc R.; Bahuau M.;
Am. J. Med. Genet. A 126:18-26(2004)
Cited for: VARIANTS SMDP2 THR-73 AND GLN-167;

Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene.
Brasch F.; Griese M.; Tredano M.; Johnen G.; Ochs M.; Rieger C.; Mulugeta S.; Mueller K.M.; Bahuau M.; Beers M.F.;
Eur. Respir. J. 24:30-39(2004)
Cited for: VARIANT SMDP2 THR-73; CHARACTERIZATION OF VARIANT SMDP2 THR-73;

Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation.
Percopo S.; Cameron H.S.; Nogee L.M.; Pettinato G.; Montella S.; Santamaria F.;
Eur. Respir. J. 24:1072-1073(2004)
Cited for: VARIANT SMDP2 THR-73;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.