Variant position: 841 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 DNRNDTEGFKYPLGHEVNHS- RETSIEMEESELDAQYLQNTF
Gorilla DTRNDTEGFKYPLGHEVNHS- RETSIEMEESELDAQYLQNT
Rhesus macaque DTRNDTEGFKYPLGSEVNHS- QETSIEIEESELDTQYLQNT
Chimpanzee DTRNDTEGFKYPLGHEVNHS- RETSIEMEESELDAQYLQNT
Mouse NAGSGTEGLKPPLRHALNLS- QEK-VEMEDSELDTQYLQNT
Rat NAGSGSECFKHPLRHELNHN- QET-IEMEDSELDTQYLQNT
Bovine DTKNNTEGFQDLLGHDINYVI QETSREMEDSELDTQYLQNT
Caenorhabditis elegans --------------------- RENSTEIDEID---------
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
840 – 840 Phosphoserine
64 – 1863 Missing. In isoform 2.
224 – 1365 Missing. In isoform 5.
264 – 1366 Missing. In isoform 3 and isoform 6.
BRCA1 R841W: a strong candidate for a common mutation with moderate phenotype.
Barker D.F.; Almeida E.F.A.; Casey G.; Fain P.R.; Liao S.-Y.; Masunaka I.; Noble B.; Kurosaki T.; Anton-Culver H.;
Genet. Epidemiol. 13:595-604(1996)
Cited for: VARIANT BROVCA1 TRP-841;
A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene.
Dong J.; Chang-Claude J.; Wu Y.; Schumacher V.; Debatin I.; Tonin P.; Royer-Pokora B.;
Hum. Genet. 103:154-161(1998)
Cited for: VARIANT BC GLY-61; VARIANTS ARG-239; TRP-841 AND ILE-1512;
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.