Variant position: 552 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:
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 INQGTNQTEQNGQVMNITNS GHENKTKGDSIQNEKNPNPIE
Gorilla INQGTNQMEQNGQVMNITNS GHENKTKGDSIQNEKNPNPIE
Rhesus macaque INQGTNQMEQNGQVMNITNS AHENKTKGDSIQNEKNPNAIE
Chimpanzee INQGTNQMEQNGQVMNITNS GHENKTKGDSIQNEKNPNPIE
Mouse INQGTDLMEPNEQAVSTTSN CQENKIAGSNLQKEKSAHPTE
Rat LNQGTDQMEPNDQAMSITSN GQENRATGNDLQRGRNAHPIE
Bovine MTEGTDQTEQKCHGMNITSD GHENKTKRDYVQKEQNANPAE
Caenorhabditis elegans -------------------- ----------------AEPVE
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 – 1863 Breast cancer type 1 susceptibility protein
534 – 570 Disordered
534 – 569 Polar residues
551 – 551 Phosphoserine
64 – 1863 Missing. In isoform 2.
224 – 1365 Missing. In isoform 5.
264 – 1366 Missing. In isoform 3 and isoform 6.
High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families.
Katagiri T.; Kasumi F.; Yoshimoto M.; Nomizu T.; Asaishi K.; Abe R.; Tsuchiya A.; Sugano M.; Takai S.; Yoneda M.; Fukutomi T.; Nanba K.; Makita M.; Okazaki H.; Hirata K.; Okazaki M.; Furutsuma Y.; Morishita Y.; Iino Y.; Karino T.; Ayabe H.; Hara S.; Kajiwara T.; Houga S.; Shimizu T.; Toda M.; Yamazaki Y.; Uchida T.; Kunitomo K.; Sonoo H.; Kurebayashi J.; Shimotsuma K.; Nakamura Y.; Miki Y.;
J. Hum. Genet. 43:42-48(1998)
Cited for: VARIANTS BC SER-22; LEU-461; ASP-465; VAL-552; SER-892; ASP-960; ILE-1025 AND ALA-1047;
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.