Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P38398: Variant p.Ala1623Gly

Breast cancer type 1 susceptibility protein
Gene: BRCA1
Feedback?
Variant information Variant position: help 1623 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Alanine (A) to Glycine (G) at position 1623 (A1623G, p.Ala1623Gly). 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: help Change from small size and hydrophobic (A) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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: help In BROVCA1; major splicing aberration identified with this mutant. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1623 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1863 The length of the canonical sequence.
Location on the sequence: help PQLKVAESAQSPAAAHTTDT A GYNAMEESVSREKPELTAST 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         PQLKVAESAQSPAAAHTTDTAGYNAMEESVSREKPELTAST

Gorilla                       PQLKVAESAQSPAAAHTTNTAGYHAMEESVSREKPELTAST

                              PQFQVEESAKSTAAVHIASTAGYNKSEDSVGIEKPEVISST

Rhesus macaque                PQWQVAESAQSPAAAHNTNTAGYNAMEESVSRENPKLTAST

Chimpanzee                    PQLKVAESAQSPAAAHTTNTAGYNAMEESVSREKPELTAST

Mouse                         PQGQVA--FRSAAAAGADK-----AVVGIVSKIKPELTSSE

Rat                           SQGQVAGSCRSPAAGGADT-----AVVEIVSKIKPEVTSPK

Bovine                        SQFRVEESTKNPAAAHIANTTRCNLREESMSKEKPEVISST

Caenorhabditis elegans        -----------------------------------------
Sequence annotation in neighborhood: help 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.



Literature citations
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; ILE-1685; ALA-1685; ARG-1689; TRP-1699; GLU-1706; GLU-1708; ARG-1715; ARG-1738; PRO-1764; SER-1766 AND VAL-1788; VARIANT BROVCA1 GLY-1623; Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.
Walker L.C.; Whiley P.J.; Couch F.J.; Farrugia D.J.; Healey S.; Eccles D.M.; Lin F.; Butler S.A.; Goff S.A.; Thompson B.A.; Lakhani S.R.; Da Silva L.M.; Tavtigian S.V.; Goldgar D.E.; Brown M.A.; Spurdle A.B.;
Hum. Mutat. 31:E1484-E1505(2010)
Cited for: CHARACTERIZATION OF VARIANT ILE-1685; CHARACTERIZATION OF VARIANT BROVCA1 GLY-1623;
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.