Variant position: 28 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 PLSCEEKEKLKEKLAFLKRE YSKTLARLQRAQRAEKIKHSI
Mouse PLSYAEKEKLKEKLAFLKKE YSRTLARLQRAKRAEKAKNS-
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
1 – 579 DNA-binding (with the preference D loop > dsDNA > ssDNA)
1 – 319 Interaction with BRCA1
1 – 200 Interaction with RAD51
1 – 160 Required for its oligomerization and is important for its focal concentration at DNA damage sites
9 – 41
14 – 14 K -> A. Loss of interaction with BRCA1 but no effect on interaction with BRCA2.
21 – 21 L -> A. Loss of interaction with BRCA1 but no effect on interaction with BRCA2.
28 – 28 Y -> A. Loss of interaction with BRCA1 but no effect on interaction with BRCA2.
35 – 35 L -> A. Loss of interaction with BRCA1 but no effect on interaction with BRCA2.
42 – 42 E -> A. Loss of interaction with BRCA1 but no effect on interaction with BRCA2.
Compromised BRCA1-PALB2 interaction is associated with breast cancer risk.
Foo T.K.; Tischkowitz M.; Simhadri S.; Boshari T.; Zayed N.; Burke K.A.; Berman S.H.; Blecua P.; Riaz N.; Huo Y.; Ding Y.C.; Neuhausen S.L.; Weigelt B.; Reis-Filho J.S.; Foulkes W.D.; Xia B.;
Cited for: FUNCTION; SUBUNIT; INTERACTION WITH BRCA1; BRCA2 AND RAD51; SUBCELLULAR LOCATION; VARIANT BC PRO-35; CHARACTERIZATION OF VARIANT BC PRO-35; CHARACTERIZATION OF VARIANTS ARG-18; CYS-28 AND HIS-37;
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.