UniProtKB/SwissProt variant VAR

Variant information

Variant position:

171

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

Type of variant:

Disease [Disclaimer]

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 Serine (S) to Isoleucine (I) at position 171 (S171I, p.Ser171Ile).

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 small size and polar (S) to medium size and hydrophobic (I)

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

Involvement in disease:

Familial adenomatous polyposis (FAP) [MIM:175100]: A cancer predisposition syndrome characterized by adenomatous polyps of the colon and rectum, but also of upper gastrointestinal tract (ampullary, duodenal and gastric adenomas). This is a viciously premalignant disease with one or more polyps progressing through dysplasia to malignancy in untreated gene carriers with a median age at diagnosis of 40 years. {ECO:0000269|PubMed:10470088, ECO:0000269|PubMed:1338691, ECO:0000269|PubMed:1338764, ECO:0000269|PubMed:1338904, ECO:0000269|PubMed:1651563, ECO:0000269|PubMed:21643010, ECO:0000269|PubMed:27217144, ECO:0000269|PubMed:7661930, ECO:0000269|PubMed:7833149, ECO:0000269|PubMed:7833931, ECO:0000269|PubMed:8990002}. Note=The disease is caused by mutations affecting the gene represented in this entry.

The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:

In FAP.

Any additional useful information about the variant.

Sequence information

Variant position:

171

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:

EEKEKDWYYAQLQNLTKRID S LPLTENFSLQTDMTRRQLEY

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                         EEKEKDWYYAQLQNLTKRIDSLPLTENFSLQTDMTRRQLEY

Mouse                         EEKEKDWYYAQLQNLTKRIDSLPLTENFSLQTDMTRRQLEY

Rat                           EEKEKDWYYAQLQNLTKRIDSLPLTENFSLQTDMTRRQLEY

Xenopus laevis                EEKEKRWYYAQLQNLTKRIDSLPLTENFSMQTDMTRRQLEY

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
Coiled coil	127 – 248
Compositional bias	1 – 730	Leu-rich

Literature citations

Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis.
van der Luijt R.B.; Meera Khan P.; Vasen H.F.A.; Tops C.M.J.; van Leeuwen-Cornelisse I.S.J.; Wijnen J.T.; van der Klift H.M.; Plug R.J.; Griffioen G.; Fodde R.;
Hum. Mutat. 9:7-16(1997)
Cited for: VARIANT FAP ILE-171;

UniProtKB/Swiss-Prot P25054: Variant p.Ser171Ile