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UniProtKB/Swiss-Prot P38398: Variant p.Arg866Gln

Breast cancer type 1 susceptibility protein
Gene: BRCA1
Variant information

Variant position:  866
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  US
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Arginine (R) to Glutamine (Q) at position 866 (R866Q, p.Arg866Gln).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (R) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In BC; unknown pathological significance.
Any additional useful information about the variant.



Sequence information

Variant position:  866
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:   EMEESELDAQYLQNTFKVSK  R QSFAPFSNPGNAEEECATFS
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                         EMEESELDAQYLQNTFKVSKRQSFAPFSNPGNAEEECATFS

Gorilla                       EMEESELDAQYLQNTFKVSKRQSFALFSNPGNPEEECATFS

                              EMEESELDTQCLRNMFKVSKRQSFALFSYPRDPEEDCVTVC

Rhesus macaque                EIEESELDTQYLQNTFKVSKRQSFALFSNPGNPEEECATFS

Chimpanzee                    EMEESELDAQYLQNTFKVSKRQSFALFSNPGNPEEECATFS

Mouse                         EMEDSELDTQYLQNTFQVSKRQSFALFSKPRSPQKDC----

Rat                           EMEDSELDTQYLQNTFQVSKRQSFALFSKLRSPQKDCTLVG

Bovine                        EMEDSELDTQYLQNTFKASKRQTFALFSNPGNPQKECATVF

Caenorhabditis elegans        EIDEID------------------ALF--------------

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.

TypePositionsDescription
Chain 1 – 1863 Breast cancer type 1 susceptibility protein
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

Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.
Meyer P.; Voigtlaender T.; Bartram C.R.; Klaes R.;
Hum. Mutat. 22:259-259(2003)
Cited for: VARIANTS BC GLY-61; LYS-71; GLN-866; TYR-888; ILE-1139; GLY-1210 AND PRO-1297; VARIANTS BROVCA1 TYR-835 AND PRO-1786;

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.