UniProtKB/Swiss-Prot P15509: Variant p.Gly196Arg

Granulocyte-macrophage colony-stimulating factor receptor subunit alpha
Gene: CSF2RA
Chromosomal location: Xp22.32
Variant information

Variant position:  196
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 have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Glycine (G) to Arginine (R) at position 196 (G196R, p.Gly196Arg).
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 glycine (G) to large size and basic (R)
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 4 (SMDP4) [MIM:300770]: A rare lung disorder 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:18955567, ECO:0000269|PubMed:18955570}. 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 SMDP4.
Any additional useful information about the variant.



Sequence information

Variant position:  196
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  400
The length of the canonical sequence.

Location on the sequence:   VGCHLDNLSGLTSRNYFLVN  G TSREIGIQFFDSLLDTKKIE
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                         V--GCHLDNLSGLTSRNYFLVNGTSREIGIQFFDSLLDTKKIE

Mouse                         VITQCIANDLSLLGSEAYLVVTGRSGAGPVRFLDDVVATKA

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
Chain 23 – 400 Granulocyte-macrophage colony-stimulating factor receptor subunit alpha
Topological domain 23 – 320 Extracellular
Glycosylation 182 – 182 N-linked (GlcNAc...)
Glycosylation 195 – 195 N-linked (GlcNAc...)
Beta strand 188 – 197


Literature citations

Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA.
Suzuki T.; Sakagami T.; Rubin B.K.; Nogee L.M.; Wood R.E.; Zimmerman S.L.; Smolarek T.; Dishop M.K.; Wert S.E.; Whitsett J.A.; Grabowski G.; Carey B.C.; Stevens C.; van der Loo J.C.; Trapnell B.C.;
J. Exp. Med. 205:2703-2710(2008)
Cited for: VARIANT SMDP4 ARG-196;

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.