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UniProtKB/Swiss-Prot Q13428: Variant p.Ala665Pro

Treacle protein
Gene: TCOF1
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Variant information Variant position: help 665 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Alanine (A) to Proline (P) at position 665 (A665P, p.Ala665Pro). 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: help Change from small size and hydrophobic (A) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 665 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1488 The length of the canonical sequence.
Location on the sequence: help PKKTNTTASAKVAPVRVGTQ A PRKAGTATSPAGSSPAVAGG 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         PKKTNTTASAKVAPVRVGTQAPRKAGTATSPAG-SSPAVAGG

Mouse                         SRKGTPASATGAS-----TSSHCKAGAVTSSASLSSPALAK
Sequence annotation in neighborhood: help 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 1 – 1488 Treacle protein
Region 57 – 1288 Disordered
Modified residue 679 – 679 Phosphoserine



Literature citations
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome.
Dixon J.; Edwards S.J.; Gladwin A.J.; Dixon M.J.; Loftus S.K.; Bonner C.A.; Koprivnikar K.; Wasmuth J.J.;
Nat. Genet. 12:130-136(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANTS PRO-665 AND ALA-887; Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene.
Dixon J.; Edwards S.J.; Anderson I.; Brass A.; Scambler P.J.; Dixon M.J.;
Genome Res. 7:223-234(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2); VARIANTS PRO-665 AND ALA-887; TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region.
Wise C.A.; Chiang L.C.; Paznekas W.A.; Sharma M.; Musy M.M.; Ashley J.A.; Lovett M.; Jabs E.W.;
Proc. Natl. Acad. Sci. U.S.A. 94:3110-3115(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANTS PRO-665 AND ALA-887; Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons.
So R.B.; Gonzales B.; Henning D.; Dixon J.; Dixon M.J.; Valdez B.C.;
Gene 328:49-57(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); ALTERNATIVE SPLICING (ISOFORM 4); VARIANTS PRO-665 AND ALA-887;
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.