UniProtKB/Swiss-Prot P38398: Variant p.Arg1243Gly

Breast cancer type 1 susceptibility protein
Gene: BRCA1
Chromosomal location: 17q21
Variant information

Variant position:  1243
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Arginine (R) to Glycine (G) at position 1243 (R1243G, p.Arg1243Gly).
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 glycine (G)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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 BROVCA1.
Any additional useful information about the variant.



Sequence information

Variant position:  1243
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:   LPCFQHLLFGKVNNIPSQST  R HSTVATECLSKNTEENLLSL
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                         LPCFQHLLFGKVNNIPSQSTRHSTVATECLSKNTEENLLSL

Gorilla                       LPCFQHLLFGKVSNIPSQSTRHSTVATECLSKNTEENLLSL

Rhesus macaque                LPCFQHLLFGKVSNIPSQTTRHSTVATECLSKNTEENLLSL

Chimpanzee                    LPCFQHLLFGKVSNIPSQSTRHSTVATECLSKNTEENLLSL

Mouse                         LPCFQHLL-SRISNTP-ELTRCSSAVTQRMPEKAEGTQAPW

Rat                           LPCFQHLL-SRVSSTP-ELTRCSSVVTQRVPEKAKGTQAPR

Bovine                        LPCFQQLLFGKVTSTLSPSTGCNTVATEGLSKETEGNLESL

Dog                           LPCFQHLIFGKVTNMPSQSTSHNAVAAEGLSNKTEENLDSL

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.
Mutagenesis 1239 – 1239 S -> A. No effect on in vitro phosphorylation by ATR.


Literature citations

Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families.
Valarmathi M.T.; Sawhney M.; Deo S.S.V.; Shukla N.K.; Das S.N.;
Hum. Mutat. 23:205-205(2004)
Cited for: VARIANTS BC/BROVCA1 LYS-10; LYS-23; ILE-1187; HIS-1200 AND TYR-1217; VARIANTS BC ILE-1204 AND ASN-1207; VARIANTS BROVCA1 LEU-1226 AND GLY-1243; VARIANT ARG-1183;

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.