UniProtKB/Swiss-Prot P25054: Variant p.Ile2738Thr

Adenomatous polyposis coli protein
Gene: APC
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Variant information Variant position:

2738 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 2738 (I2738T, p.Ile2738Thr). 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
Other resources:

Links to websites of interest for the variant.

Variant rs863224552 [ dbSNP | Ensembl ]

Sequence information Variant position:

2738 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:

LENRLNSFIQVDAPDQKGTE I KPGQNNPVPVSETNESSIVE 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                         LENRLNSFIQVDAPDQKGTEIKPGQNNPVPVSETNESSIVE

Mouse                         LETRLNSFVQVEAPEQKGTEAKPGQSNPVSIAETAETCIAE

Rat                           LENRLNSFIQVEAPEQKGTETKAGQGSPAPVAETGETCMAE

Xenopus laevis                LENRQKSFIKVDGLDTKGTDPKSLINNQ---QETNENTVAE

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.

Type	Positions	Description
Chain	2 – 2843	Adenomatous polyposis coli protein
Region	2475 – 2843	Interaction with DLG1
Region	2674 – 2843	Interaction with MAPRE1
Region	2729 – 2843	Disordered
Compositional bias	2737 – 2813	Polar residues
Modified residue	2724 – 2724	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.