Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13426: Variant p.Ala56Thr

DNA repair protein XRCC4
Gene: XRCC4
Feedback?
Variant information Variant position: help 56 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Threonine (T) at position 56 (A56T, p.Ala56Thr). 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 medium size and polar (T) 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

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


Sequence information Variant position: help 56 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 336 The length of the canonical sequence.
Location on the sequence: help LTDGHSAWTGTVSESEISQE A DDMAMEKGKYVGELRKALLS 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                         LTDGHSAWTGTVSESEISQEADDMAMEKGKYVGELRKALLS

Mouse                         LTDGHSAWTATVSELEISQEADDMAMEKGKYIDELRKALVP

Slime mold                    LTDLTNVWSSNVTTKYIENILKPQGMSFDQYFQLLKKSLLK

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 – 336 DNA repair protein XRCC4
Region 1 – 213 Interaction with IFFO1
Modified residue 53 – 53 Phosphoserine; by PRKDC
Mutagenesis 55 – 55 E -> R. Abolished interaction with NHEJ1/XLF.
Mutagenesis 58 – 58 D -> R. Abolished interaction with NHEJ1/XLF.
Mutagenesis 61 – 61 M -> R. Abolished interaction with NHEJ1/XLF.
Mutagenesis 62 – 62 E -> R. Does not affect interaction with NHEJ1/XLF.
Mutagenesis 65 – 65 K -> E. Strongly decreased interaction with NHEJ1/XLF. Abolished interaction with NHEJ1/XLF; when associated with E-99. Abolished ability to bridge DNA; when associated with E-99. Abolished interaction with NHEJ1/XLF; when associated with E-102.
Mutagenesis 69 – 69 E -> R. Does not affect interaction with NHEJ1/XLF.
Mutagenesis 71 – 71 R -> E. Abolished interaction with NHEJ1/XLF; when associated with E-99.
Mutagenesis 72 – 72 K -> E. Abolished interaction with NHEJ1/XLF; when associated with E-99. Abolished ability to bridge DNA; when associated with E-90 and E-99.
Helix 49 – 58



Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS CYS-12; THR-56; THR-134; GLN-142 AND SER-247;
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.