Sequence information
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:
DLSALRVEEVQNVINAMQKI
L ECPICLELIKEPVSTKCDHI
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 DLSALRVEEVQNVINAMQKIL ECPICLELIKEPVSTKCDHI
Gorilla DLSALRVEEVQNVINAMQKIL ECPICLELIKEPVSTKCDHI
DLSADRVEEVQNVLNAMQKIL ECPICLELIKEPVSTKCDHI
Rhesus macaque DLSAVRVEEVQNVINAMQKIL ECPICLELIKEPVSTKCDHI
Chimpanzee DLSALRVEEVQNVINAMQKIL ECPICLELIKEPVSTKCDHI
Mouse DLSAVQIQEVQNVLHAMQKIL ECPICLELIKEPVSTKCDHI
Rat DLSAVRIQEVQNVLHAMQKIL ECPICLELIKEPVSTQCDHI
Bovine DLSADHVEEVQNVLNAMQKIL ECPICLELIKEPVSTKCDHI
Caenorhabditis elegans ADVALRITE---TVARLQKEL KCGICCSTYKDPILSTCFHI
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
Alternative sequence
1 – 47
Missing. In isoform 8.
Mutagenesis
26 – 26
I -> A. Disrupts the interaction with E2 enzymes, thereby abolishing the E3 ubiquitin-protein ligase activity.
Mutagenesis
26 – 26
I -> E. No ubiquitination of RBBP8. No restoration RBBP8-mediated focus formation or G2/M checkpoint control upon DNA damage.
Literature citations
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;
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.