UniProtKB/Swiss-Prot P51587: Variant p.Thr1915Met

Breast cancer type 2 susceptibility protein
Gene: BRCA2
Feedback?

Variant information Variant position:

1915 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 Threonine (T) to Methionine (M) at position 1915 (T1915M, p.Thr1915Met). 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 polar (T) to medium size and hydrophobic (M) 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 rs4987117 [ dbSNP | Ensembl ]

Sequence information Variant position:

1915 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:

EALDDSEDILHNSLDNDECS T HSHKVFADIQSEEILQHNQN 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                         EALDDSEDILH-NSLDNDECSTHSHKVFADIQSEEILQHNQN

Mouse                         KVLDDSKDFICPSS-SGDVCINSRKDSFCP-HNEQILQHNQ

Rat                           KALDNSEDFICPSS-SGDVCINSPMAIFYP-QSEQILQHNQ

Cat                           KAPDDSEDTICPNSLDGAECSSPSHKDFAETQSEQTPQLNQ

Drosophila                    EPHQPTLDPVC------------------------------

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	1003 – 2082	Interaction with RAD51

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; Mutations of the BRCA2 gene in ovarian carcinomas.
Takahashi H.; Chiu H.-C.; Bandera C.A.; Behbakht K.; Liu P.C.; Couch F.J.; Weber B.L.; LiVolsi V.A.; Furusato M.; Rebane B.A.; Cardonick A.; Benjamin I.; Morgan M.A.; King S.A.; Mikuta J.J.; Rubin S.C.; Boyd J.;
Cancer Res. 56:2738-2741(1996)
Cited for: VARIANT OVARIAN CANCER HIS-2787; VARIANTS HIS-372; MET-1915 AND ALA-2466; BRCA2 germline mutations in male breast cancer cases and breast cancer families.
Couch F.J.; Farid L.M.; Deshano M.L.; Tavtigian S.V.; Calzone K.; Campeau L.; Peng Y.; Bogden B.; Chen Q.; Neuhausen S.; Shattuck-Eidens D.; Godwin A.K.; Daly M.; Radford D.M.; Sedlacek S.; Rommens J.; Simard J.; Garber J.; Merajver S.; Weber B.L.;
Nat. Genet. 13:123-125(1996)
Cited for: VARIANTS HIS-372; ASP-991; SER-1147; MET-1915 AND CYS-2034; 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; Somatic mutations in the BRCA2 gene and high frequency of allelic loss of BRCA2 in sporadic male breast cancer.
Kwiatkowska E.; Teresiak M.; Breborowicz D.; Mackiewicz A.;
Int. J. Cancer 98:943-945(2002)
Cited for: VARIANTS BC TYR-1580 AND MET-1915; Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation.
Hadjisavvas A.; Charalambous E.; Adamou A.; Neuhausen S.L.; Christodoulou C.G.; Kyriacou K.;
Cancer Genet. Cytogenet. 151:152-156(2004)
Cited for: VARIANTS BC ILE-64; GLY-462; ASN-1690; ASP-1771; MET-1887; MET-1915 AND GLU-2456; VARIANTS HIS-289; HIS-372; ASP-991; SER-1279; TYR-1420; CYS-2108 AND ALA-2466;

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.