Variant position: 1685 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 VYKFARKHHITLTNLITEET TH-VVMKTDAEFVCERTLKYFL
Gorilla VYKFARKHHITLTNLITEET TH-VVMKTDAEFVCERTLKYF
Rhesus macaque VYKFARRYHIALTNLISEET TH-VVMKTDAEFVCERTLKYF
Chimpanzee VYKFARKHHITLTNLITEET TH-VVMKTDAEFVCERTLKYF
Mouse VQKFAEKYRLTLTDAITEET TH-VIIKTDAEFVCERTLKYF
Rat VQKFAEKYRLALTDVITEET TH-VIIKTDAEFVCERTLKYF
Bovine VQKFARKHHVTLTNLITEET TH-VIMKTDPEFVCERTLKYF
Caenorhabditis elegans --RFAED--------VNEHT THLVMMNSEGRSISQKSTAYL
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
1642 – 1736 BRCT 1
64 – 1863 Missing. In isoform 2.
1666 – 1666 Y -> A. Does not abolish ABRAXAS1 binding, but impairs formation of a heterotetramer with ABRAXAS1.
1670 – 1670 R -> E. Impairs formation of a heterotetramer with ABRAXAS1.
1671 – 1671 K -> E. Impairs formation of a heterotetramer with ABRAXAS1.
1700 – 1700 T -> A. Strongly reduces affinity for a BRIP1 phosphopeptide.
1702 – 1702 K -> M. Abolishes interaction with BRIP1.
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.
Easton D.F.; Deffenbaugh A.M.; Pruss D.; Frye C.; Wenstrup R.J.; Allen-Brady K.; Tavtigian S.V.; Monteiro A.N.A.; Iversen E.S.; Couch F.J.; Goldgar D.E.;
Am. J. Hum. Genet. 81:873-883(2007)
Cited for: VARIANTS THR-18; MET-1495; GLY-1623; ILE-1685; ALA-1685; ARG-1689; TRP-1699; GLU-1706; GLU-1708; ARG-1715; ARG-1738; PRO-1764; SER-1766 AND VAL-1788;
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.