UniProtKB/Swiss-Prot P51587: Variant p.Asn372His

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

372 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 Asparagine (N) to Histidine (H) at position 372 (N372H, p.Asn372His). 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 polar. 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 rs144848 [ dbSNP | Ensembl ]

Sequence information Variant position:

372 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:

YSFVSEVEPNDTDPLDSNVA N QKPFESGSDKISKEVVPSLA 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                         YSFVSEVEPNDTDPLDSNVANQKPFESGSDKISKEVVPSLA

Mouse                         NSFVFEMELRESDPLDPGVTSQKPFYSQNEEICNEAVQCSD

Rat                           NSFALEIEPRDSEPLDPSVTNQKPLYSQSGDISSEAGQCSD

Cat                           HSFVSEMEANASDPLDSNVTNQKPFGNGSDKISKEVVLSSA

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	358 – 381	Disordered
Compositional bias	362 – 378	Polar residues

Literature citations
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds.
Tavtigian S.V.; Simard J.; Rommens J.; Couch F.; Shattuck-Eidens D.; Neuhausen S.; Merajver S.; Thorlacius S.; Offit K.; Stoppa-Lyonnet D.; Belanger C.; Bell R.; Berry S.; Bogden R.; Chen Q.; Davis T.; Dumont M.; Frye C.; Hattier T.; Jammulapati S.; Janecki T.; Jiang P.; Kehrer R.; Leblanc J.-F.; Mitchell J.T.; McArthur-Morrison J.; Nguyen K.; Peng Y.; Samson C.; Schroeder M.; Snyder S.C.; Steele L.; Stringfellow M.; Stroup C.; Swedlund B.; Swensen J.; Teng D.; Thomas A.; Tran T.; Tran T.; Tranchant M.; Weaver-Feldhaus J.; Wong A.K.C.; Shizuya H.; Eyfjord J.E.; Cannon-Albright L.; Labrie F.; Skolnick M.H.; Weber B.; Kamb A.; Goldar D.E.;
Nat. Genet. 12:333-337(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS HIS-372 AND PHE-599; VARIANT ALA-2466; 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; 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; A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability.
Healey C.S.; Dunning A.M.; Teare M.D.; Chase D.; Parker L.; Burn J.; Chang-Claude J.; Mannermaa A.; Kataja V.; Huntsman D.G.; Pharoah P.D.P.; Luben R.N.; Easton D.F.; Ponder B.A.J.;
Nat. Genet. 26:362-364(2000)
Cited for: VARIANT HIS-372; 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; BRCA2 germline mutations in Cypriot patients with familial breast/ovarian cancer.
Hadjisavvas A.; Charalambous E.; Adamou A.; Christodoulou C.G.; Kyriacou K.;
Hum. Mutat. 21:171-171(2003)
Cited for: VARIANTS HIS-289; HIS-372; GLY-462; ASP-991; SER-1279; TYR-1420; ASP-1771 AND ALA-2466; 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; 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.