Sequence information
Variant position: 1179 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:
CRDADLHVIMNAPSIGQVDS
S KQFEGTVEIKRKFAGLLKND
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 CRDADLHVIMNAPSIGQVDSS KQFEGTVEIKRKFAGLLKND
Mouse WKDTDLHLPVDP-SVGQTDHS KQFEGSAGVKQSFPHLLEDT
Rat WKDVDLHLPLNPSSVGQIDHN KKFECLVGVKQSSSHLLEDT
Cat QKDGHLRLTINALSISQGDSS KKFEGIIGGKQKLACLSKTS
Drosophila ------KLKLEPSSQKEQKSS KDSNAS-----KVRGASKQS
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
BRCA2 germline mutations in male breast cancer patients in the Polish population.
Kwiatkowska E.; Teresiak M.; Lamperska K.M.; Karczewska A.; Breborowicz D.; Stawicka M.; Godlewski D.; Krzyzosiak W.J.; Mackiewicz A.;
Hum. Mutat. 17:73-73(2001)
Cited for: VARIANTS BC ASN-1179; ILE-3124 AND GLU-3196; VARIANT TYR-1420;
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.