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UniProtKB/Swiss-Prot P07333: Variant p.Pro132Leu

Macrophage colony-stimulating factor 1 receptor
Gene: CSF1R
Variant information

Variant position:  132
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Proline (P) to Leucine (L) at position 132 (P132L, p.Pro132Leu).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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

Variant description:  In BANDDOS; impairs phosphorylation of JNK kinases upon stimulation with CSF1.
Any additional useful information about the variant.

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



Sequence information

Variant position:  132
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  972
The length of the canonical sequence.

Location on the sequence:   AQEVVVFEDQDALLPCLLTD  P VLEAGVSLVRVRGRPLMRHT
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                         AQEVVVF--EDQDALLPCLLTDPVLEAGVSLVRVRGRPLMRHT

Mouse                         AQEVTVV--EGQEAVLPCLITDPALKDSVSLMREGGRQVLR

Rat                           AQEVTVV--EGQEAVLPCLITDPALKDSVSLMREGGRQVLR

Cat                           AQEVTVL--EGQDALLPCLLTDPALEAGVSLVRVRGRPVLR

Zebrafish                     STSLRYVRKEGEDLLLPCLLTDPEATD-FTFRMDNGSAAPY

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 20 – 972 Macrophage colony-stimulating factor 1 receptor
Topological domain 20 – 517 Extracellular
Domain 107 – 197 Ig-like C2-type 2
Disulfide bond 127 – 177
Helix 132 – 137


Literature citations

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
Guo L.; Bertola D.R.; Takanohashi A.; Saito A.; Segawa Y.; Yokota T.; Ishibashi S.; Nishida Y.; Yamamoto G.L.; Franco J.F.D.S.; Honjo R.S.; Kim C.A.; Musso C.M.; Timmons M.; Pizzino A.; Taft R.J.; Lajoie B.; Knight M.A.; Fischbeck K.H.; Singleton A.B.; Ferreira C.R.; Wang Z.; Yan L.; Garbern J.Y.; Simsek-Kiper P.O.; Ohashi H.; Robey P.G.; Boyde A.; Matsumoto N.; Miyake N.; Spranger J.; Schiffmann R.; Vanderver A.; Nishimura G.; Passos-Bueno M.R.D.S.; Simons C.; Ishikawa K.; Ikegawa S.;
Am. J. Hum. Genet. 104:925-935(2019)
Cited for: INVOLVEMENT IN BANDDOS; VARIANTS BANDDOS LEU-132; GLN-481--972-CYS DEL AND LYS-627 DEL; CHARACTERIZATION OF VARIANTS BANDDOS LEU-132 AND LYS-627 DEL; FUNCTION;

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.