Sequence information
Variant position: 461 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:
ICKSERVHSKSVESNIEDKI
F GKTYRKKASLPNLSHVTENL
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 ICKSERVHSKSVESNIEDKIF GKTYRKKASLPNLSHVTENL
Gorilla ICKSERVHSKSVESNIEDKIF GKTYRRKASLPSLSHVTENL
Rhesus macaque ICKSERVHSSSVESNIKDKIF GKTYRRKANLPNLSHVTENL
Chimpanzee ICKSERVHSKSVESNTEDKIF GKTYRRKASLPNLSHVTENL
Mouse MCKSGRDFSKPVEDNISDKIF GKSYQRKGSRPHLNHVTE--
Rat MCTSGRDFSKPVENIINDKIF GKTYQRKGSRPHLNHVTE--
Bovine I--HERVHSKPVESNIEDKIF GKTYRRKSSLPNFSHIAEDL
Caenorhabditis elegans --------------------- --------------------
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
Cross
443 – 443
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Cross
459 – 459
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
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
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.