Home  |  Contact

UniProtKB/Swiss-Prot P04141: Variant p.Thr115Ile

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

Variant position:  115
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 Threonine (T) to Isoleucine (I) at position 115 (T115I, p.Thr115Ile).
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 polar (T) to medium size and hydrophobic (I)
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:  115
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:   TMMASHYKQHCPPTPETSCA  T QIITFESFKENLKDFLLVIP
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                         TMMASHYKQHCPPTPETSCATQIITFESFKENLKDFLLVIP

                              TMMANHYKQHCPPTPESPCATQNINFKSFKENLKDFLFNIP

Mouse                         NMTASYYQTYCPPTPETDCETQVTTYADFIDSLKTFLTDIP

Rat                           TMIASHYQTNCPPTPETDCEIEVTTFEDFIKNLKGFLFDIP

Pig                           TLLAKHYEQHCPLTEETSCETQSITFKSFKDSLNKFLFTIP

Bovine                        TMMATHYEKHCPPTPETSCGTQFISFKNFKEDLKEFLFIIP

Sheep                         TMMASHYKKHCPPTQETSCETQIITFKSFKENLKDFLFIIP

Cat                           RMMANHYKQHCPLTPETPCETQTITFKNFKEKLKDFLFNNP

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;

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.