Sequence information
Variant position: 1210 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1863 The length of the canonical sequence.
Location on the sequence:
PSPFTHTHLAQGYRRGAKKL
E SSEENLSSEDEELPCFQHLL
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 PSPFTHTHLAQGYRRGAKKLE SSEENLSSEDEELPCFQHLL
Gorilla PSPFTHTHLAQGYRRGAKKLE SSEENLSSEDEELPCFQHLL
PSPSDHTRLAQGYQRGTKKLE SSEENMSSEEEELPCFQHLI
Rhesus macaque PSPFTHTHLAQGYQKEAKKLE SSEENLSSEDEELPCFQHLL
Chimpanzee PSPFTHTHLAQGYRRGAKKLE SSEENLSSEDEELPCFQHLL
Mouse PSPVTHASKSQSLHRASRKLE SSEESDSTEDEDLPCFQHLL
Rat PSPVTHASKSRSLHRGSRKLE FSEESDSTEDEDLPCFQHLL
Bovine PGPFTHTHLAQGHQRGAGKLE -SEETVSSEDEELPCFQQLL
Caenorhabditis elegans PEPI----------------- ---QKLAQKPEVFKSTQNLI
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 – 1863
Breast cancer type 1 susceptibility protein
Region
1181 – 1216
Disordered
Modified residue
1191 – 1191
Phosphoserine
Modified residue
1211 – 1211
Phosphoserine
Modified residue
1217 – 1217
Phosphoserine
Modified residue
1218 – 1218
Phosphoserine
Alternative sequence
64 – 1863
Missing. In isoform 2.
Alternative sequence
224 – 1365
Missing. In isoform 5.
Alternative sequence
264 – 1366
Missing. In isoform 3 and isoform 6.
Literature citations
Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.
Meyer P.; Voigtlaender T.; Bartram C.R.; Klaes R.;
Hum. Mutat. 22:259-259(2003)
Cited for: VARIANTS BC GLY-61; LYS-71; GLN-866; TYR-888; ILE-1139; GLY-1210 AND PRO-1297; VARIANTS BROVCA1 TYR-835 AND PRO-1786;
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.