Variant position: 22 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 DLSALRVEEVQNVINAMQKI LECPICLELIKEPVSTKCDHI
Gorilla DLSALRVEEVQNVINAMQKI LECPICLELIKEPVSTKCDHI
Rhesus macaque DLSAVRVEEVQNVINAMQKI LECPICLELIKEPVSTKCDHI
Chimpanzee DLSALRVEEVQNVINAMQKI LECPICLELIKEPVSTKCDHI
Mouse DLSAVQIQEVQNVLHAMQKI LECPICLELIKEPVSTKCDHI
Rat DLSAVRIQEVQNVLHAMQKI LECPICLELIKEPVSTQCDHI
Bovine DLSADHVEEVQNVLNAMQKI LECPICLELIKEPVSTKCDHI
Caenorhabditis elegans ADVALRITE---TVARLQKE LKCGICCSTYKDPILSTCFHI
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
1 – 47 Missing. In isoform 8.
26 – 26 I -> A. Disrupts the interaction with E2 enzymes, thereby abolishing the E3 ubiquitin-protein ligase activity.
26 – 26 I -> E. No ubiquitination of RBBP8. No restoration RBBP8-mediated focus formation or G2/M checkpoint control upon DNA damage.
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;
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