Variant position: 1043 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1186 The length of the canonical sequence.
Location on the sequence:
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 QEALLGTTIMNNIVIWNLKT GQLLKKMHIDDSYQASVCHKA
Mouse QEALLGTTTVNSIVIWNLKT GQLLKKMHIDDSYQASVCHGA
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
1 – 1186 Partner and localizer of BRCA2
1010 – 1052 WD 4
775 – 1186 Required for interaction with POLH and POLH DNA synthesis stimulation
853 – 1186 Interaction with RAD51, BRCA2 and POLH
1030 – 1030 T -> I. Unstable and promotes protein degradation; reduces interaction with RAD51C and RAD51.
Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer.
Hellebrand H.; Sutter C.; Honisch E.; Gross E.; Wappenschmidt B.; Schem C.; Deissler H.; Ditsch N.; Gress V.; Kiechle M.; Bartram C.R.; Schmutzler R.K.; Niederacher D.; Arnold N.; Meindl A.;
Hum. Mutat. 32:E2176-E2188(2011)
Cited for: VARIANTS TYR-46; GLY-219; CYS-334; SER-337; GLN-414; MET-425; THR-491; ARG-515; ARG-559; GLN-672; VAL-712; LEU-728; SER-864; ALA-917; MET-932; TRP-939; VAL-966; GLU-998; THR-1025; ALA-1043; GLY-1075; ALA-1105; HIS-1114; PRO-1143 AND TYR-1170;
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.