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UniProtKB/Swiss-Prot P25054: Variant p.Glu1057Gly

Adenomatous polyposis coli protein
Gene: APC
Variant information

Variant position:  1057
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glutamate (E) to Glycine (G) at position 1057 (E1057G, p.Glu1057Gly).
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 acidic (E) to glycine (G)
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

Variant description:  In non-FAP; unknown pathological significance.
Any additional useful information about the variant.



Sequence information

Variant position:  1057
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2843
The length of the canonical sequence.

Location on the sequence:   NSGRQSPSQNERWARPKHII  E DEIKQSEQRQSRNQSTTYPV
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                         NSGRQSPSQNERWARPKHIIEDEIKQSEQRQSRNQSTTYPV

Mouse                         NSGRQSPSQNERWARPKHVIEDEIKQNEQRQARSQNTSYPV

Rat                           NSGRQSPSQNERWARPKHVIEDEIKQNEQRQSRSQNTNFPV

Xenopus laevis                NSGRQSPTQNERWSRPKHIIDSEMKQSEQRQPRTTKTTYSS

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 2 – 2843 Adenomatous polyposis coli protein
Region 960 – 1337 Responsible for down-regulation through a process mediated by direct ubiquitination
Compositional bias 731 – 2832 Ser-rich
Modified residue 1038 – 1038 Phosphoserine
Modified residue 1042 – 1042 Phosphoserine


Literature citations

Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition.
Wallis Y.L.; Morton D.G.; McKeown C.M.; Macdonald F.;
J. Med. Genet. 36:14-20(1999)
Cited for: VARIANTS GLY-1057; CYS-1171; ASP-1822 AND THR-2738;

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.