UniProtKB/Swiss-Prot P51587: Variant p.Ile3412Val

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

3412 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 Valine (V) at position 3412 (I3412V, p.Ile3412Val). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

3 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 rs1801426 [ dbSNP | Ensembl ]

Sequence information Variant position:

3412 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:

KEQESSQASTEECEKNKQDT I TTKKYI 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                         KEQESSQASTEECEKNKQDTITTKKYI----------

Mouse                         RDC-------RGDSSEKLAVES-----

Rat                           RDC-------RDDSDGKLAAETVPDYS

Cat                           RDCENPQASTEGGEPDVQDTDTVKRSS

Drosophila                    ---------------------------

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	3393 – 3418	Disordered
Compositional bias	3398 – 3418	Basic and acidic residues

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 low proportion of BRCA2 mutations in Finnish breast cancer families.
Vehmanen P.; Friedman L.S.; Eerola H.; Sarantaus L.; Pyrhoenen S.; Ponder B.A.J.; Muhonen T.; Nevanlinna H.;
Am. J. Hum. Genet. 60:1050-1058(1997)
Cited for: VARIANT BC ASP-2089; VARIANT VAL-3412; Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan.
Li S.S.-L.; Tseng H.-M.; Yang T.-P.; Liu C.-H.; Teng S.-J.; Huang H.-W.; Chen L.-M.; Kao H.-W.; Chen J.H.; Tseng J.-N.; Chen A.; Hou M.-F.; Huang T.-J.; Chang H.-T.; Mok K.-T.; Tsai J.-H.;
Hum. Genet. 104:201-204(1999)
Cited for: VARIANTS HIS-289; HIS-372; ASP-991 AND VAL-3412; BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease.
Plaschke J.; Commer T.; Jacobi C.; Schackert H.K.; Chang-Claude J.;
J. Med. Genet. 37:E17-E17(2000)
Cited for: VARIANTS BC MET-729; ILE-2515 AND ILE-2728; VARIANTS HIS-289; HIS-372; ASP-991; MET-1915 AND VAL-3412; BRCA1 and BRCA2 sequence variants in Chinese breast cancer families.
Zhi X.; Szabo C.; Chopin S.; Suter N.; Wang Q.-S.; Ostrander E.A.; Sinilnikova O.M.; Lenoir G.M.; Goldgar D.; Shi Y.-R.;
Hum. Mutat. 20:474-474(2002)
Cited for: VARIANT BC ASN-2729; VARIANT VAL-3412; BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.
Claes K.; Poppe B.; Coene I.; De Paepe A.; Messiaen L.;
Br. J. Cancer 90:1244-1251(2004)
Cited for: VARIANTS BC SER-60; ARG-405; HIS-448; GLY-462; GLY-2275; ARG-2353; LYS-2488; HIS-2723; ASN-2950; ILE-3013 AND HIS-3098; VARIANTS ASP-991; ALA-2856 AND VAL-3412; One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden.
Malander S.; Ridderheim M.; Masbaeck A.; Loman N.; Kristoffersson U.; Olsson H.; Nilbert M.; Borg A.;
Eur. J. Cancer 40:422-428(2004)
Cited for: VARIANT OVARIAN CANCER CYS-42; VARIANTS SER-3063 AND VAL-3412; BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer.
Seo J.H.; Cho D.-Y.; Ahn S.-H.; Yoon K.-S.; Kang C.-S.; Cho H.M.; Lee H.S.; Choe J.J.; Choi C.W.; Kim B.S.; Shin S.W.; Kim Y.H.; Kim J.S.; Son G.-S.; Lee J.-B.; Koo B.H.;
Hum. Mutat. 24:350-350(2004)
Cited for: VARIANTS BC THR-1445; VAL-1929 AND ALA-2031; VARIANTS HIS-289; HIS-372; VAL-784; ASP-991 AND VAL-3412;

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.