UniProtKB/Swiss-Prot P11686: Variant p.Leu188Gln

Pulmonary surfactant-associated protein C
Gene: SFTPC
Chromosomal location: 8p21
Variant information

Variant position:  188
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 Leucine (L) to Glutamine (Q) at position 188 (L188Q, p.Leu188Gln).
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 (L) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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.
Any additional useful information about the variant.



Sequence information

Variant position:  188
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:   DAGSAPSGGDPAFLGMAVNT  L CGEVPLYYI
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                         DAGSA--PSGGDPAFLGMAVNTLCGEVPLYYI

                              ------------------------------

Rhesus macaque                DAGSA--PSRGDLAFLGMAVSTLCGEVPLY

Mouse                         DTGSESDSSGRDLAFLGLAVSTLCGELPLY

Rat                           SAGSDSDSSGRDLAFLGLAVSTLCGELPLY

Pig                           ------------------------------

Bovine                        DAGSA--FSG-DLAFLGRTVSTLCGEVPLY

Rabbit                        AAGPA--SSGGELAFLGAAVSTLCGEVPLI

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
Domain 94 – 197 BRICHOS
Disulfide bond 121 – 189
Helix 183 – 189


Literature citations

Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred.
Thomas A.Q.; Lane K.; Phillips J.A. III; Prince M.; Markin C.; Speer M.; Schwartz D.A.; Gaddipati R.; Marney A.; Johnson J.; Roberts R.; Haines J.; Stahlman M.; Loyd J.E.;
Am. J. Respir. Crit. Care Med. 165:1322-1328(2002)
Cited for: VARIANT SMDP2 GLN-188;

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.