UniProtKB/Swiss-Prot P51587: Variant p.Ile2490Thr

Breast cancer type 2 susceptibility protein
Gene: BRCA2
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Variant information Variant position:

2490 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 2490 (I2490T, p.Ile2490Thr). 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
Variant description:

No effect on homologous recombination-mediated DNA repair; no effect on interaction with SEM1. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs11571707 [ dbSNP | Ensembl ]

Sequence information Variant position:

2490 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

3418 The length of the canonical sequence.
Location on the sequence:

FTKCEEEPLDLITSLQNARD I QDMRIKKKQRQRVFPQPGSL 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                         FTKCEEEPLDLITSLQNARDIQDMRIKKKQRQRVFPQPGSL

Mouse                         ---------DLMSSLQSARDLQDMRIKNKERRHLRLQPGSL

Rat                           ---------DLMSSLQNARDLQDIRIKNKERHHLCPQPGSL

Cat                           FTKCEKEPLDLIASLQNARDIQDMRIREKRKQHIFPQPGSL

Drosophila                    -----------VQSLKNTSDIEHFK----------------

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	1 – 3418	Breast cancer type 2 susceptibility protein
Region	2350 – 2545	Interaction with FANCD2
Region	2481 – 2832	Interaction with SEM1

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HIS-289; GLN-322; HIS-372; VAL-784; SER-929; PHE-976; ILE-987; ASP-991; ASN-1561; LYS-1880; MET-1915; PHE-2138; ARG-2162; ARG-2440; ALA-2466; THR-2490; PRO-2835; ALA-2856; PHE-2944; THR-2951; ILE-3244 AND VAL-3412; A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.
Biswas K.; Das R.; Alter B.P.; Kuznetsov S.G.; Stauffer S.; North S.L.; Burkett S.; Brody L.C.; Meyer S.; Byrd R.A.; Sharan S.K.;
Blood 118:2430-2442(2011)
Cited for: CHARACTERIZATION OF VARIANTS FANCD1 HIS-2336; PRO-2510 AND CYS-2626; CHARACTERIZATION OF VARIANTS THR-2490 AND ASN-2729; FUNCTION; INTERACTION WITH SEM1;

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.