UniProtKB/Swiss-Prot O43542: Variant p.Thr241Met

DNA repair protein XRCC3
Gene: XRCC3
Chromosomal location: 14q32.3
Variant information

Variant position:  241
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
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 Threonine (T) to Methionine (M) at position 241 (T241M, p.Thr241Met).
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 medium size and polar (T) to medium size and hydrophobic (M)
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 CMM6 susceptibility; associated with cutaneous malignant melanoma.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  241
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  346
The length of the canonical sequence.

Location on the sequence:   CEFDSQASAPRARHLQSLGA  T LRELSSAFQSPVLCINQVTE
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                         CEFDSQASAPRARHLQSLGATLRELSSAFQSPVLCINQVTE

Mouse                         CEFHLQASAIRAKLLLSLGATLRRLSSTFRSPVLCINQVTD

Bovine                        CEFDGAALALRAQRLLALGAELRRLSCAFRSPVLCVNQVTE

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 – 346 DNA repair protein XRCC3


Literature citations

XRCC2 and XRCC3, new human Rad51-family members, promote chromosome stability and protect against DNA cross-links and other damages.
Liu N.; Lamerdin J.E.; Tebbs R.S.; Schild D.; Tucker J.D.; Shen M.R.; Brookman K.W.; Siciliano M.J.; Walter C.A.; Fan W.; Narayana L.S.; Zhou Z.-Q.; Adamson A.W.; Sorensen K.J.; Chen D.J.; Jones N.J.; Thompson L.H.;
Mol. Cell 1:783-793(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANT MET-241;

Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HIS-94 AND MET-241;

A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer.
Winsey S.L.; Haldar N.A.; Marsh H.P.; Bunce M.; Marshall S.E.; Harris A.L.; Wojnarowska F.; Welsh K.I.;
Cancer Res. 60:5612-5616(2000)
Cited for: VARIANT CMM6 SUSCEPTIBILITY MET-241;

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.