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UniProtKB/Swiss-Prot P04141: Variant p.Ile117Thr

Granulocyte-macrophage colony-stimulating factor
Gene: CSF2
Variant information

Variant position:  117
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Isoleucine (I) to Threonine (T) at position 117 (I117T, p.Ile117Thr).
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

Polymorphism:  Variant Ile-117 may be a risk factor for atopic asthma.
Additional information on the polymorphism described.

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



Sequence information

Variant position:  117
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  144
The length of the canonical sequence.

Location on the sequence:   MASHYKQHCPPTPETSCATQ  I ITFESFKENLKDFLLVIPFD
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                         MASHYKQHCPPTPETSCATQIITFESFKENLKDFLLVIPFD

                              MANHYKQHCPPTPESPCATQNINFKSFKENLKDFLFNIPFD

Mouse                         TASYYQTYCPPTPETDCETQVTTYADFIDSLKTFLTDIPFE

Rat                           IASHYQTNCPPTPETDCEIEVTTFEDFIKNLKGFLFDIPFD

Pig                           LAKHYEQHCPLTEETSCETQSITFKSFKDSLNKFLFTIPFD

Bovine                        MATHYEKHCPPTPETSCGTQFISFKNFKEDLKEFLFIIPFD

Sheep                         MASHYKKHCPPTQETSCETQIITFKSFKENLKDFLFIIPFD

Cat                           MANHYKQHCPLTPETPCETQTITFKNFKEKLKDFLFNNPFD

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 18 – 144 Granulocyte-macrophage colony-stimulating factor
Disulfide bond 105 – 138
Beta strand 115 – 119


Literature citations

Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-115 AND THR-117;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT THR-117;

Submission
Bhattacharya P.; Pandey G.; Mukherjee K.J.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 18-144; VARIANT THR-117;

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.