UniProtKB/Swiss-Prot P25054: Variant p.Gly2502Ser

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

2502 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 Glycine (G) to Serine (S) at position 2502 (G2502S, p.Gly2502Ser). 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 glycine (G) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 rs2229995 [ dbSNP | Ensembl ]

Sequence information Variant position:

2502 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:

PVLSPSLPDMSLSTHSSVQA G GWRKLPPNLSPTIEYNDGRP 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                         PVLSPSLPDMSLSTHSSVQAGGWRKLPPNLSPTIEYNDGRP

Mouse                         PVLSPSLPDMSLSTHPSVQAGGWRKLPPNLSPTIEYNDGRP

Rat                           PVLSPSLPDMSLSTHPSVQAGGWRKLPPNLSPTIEYSDGRP

Xenopus laevis                PALSPSLPDMALSTH-SIQAGGWRKMPPNLNPAAEHGDSR-

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	2147 – 2635	Disordered
Region	2167 – 2674	Basic region
Region	2475 – 2843	Interaction with DLG1

Literature citations
Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients.
Nagase H.; Miyoshi Y.; Horii A.; Aoki T.; Petersen G.M.; Vogelstein B.; Maher E.; Ogawa M.; Maruyama M.; Utsunomiya J.; Baba S.; Nakamura Y.;
Hum. Mutat. 1:467-473(1992)
Cited for: VARIANTS FAP1 MET-1292 AND TRP-1348; VARIANTS ASP-1118; VAL-1304 AND SER-2502;

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.