Sequence information
Variant position: 56 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 336 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human LTDGHSAWTGTVSESEISQEA DDMAMEKGKYVGELRKALLS
Mouse LTDGHSAWTATVSELEISQEA DDMAMEKGKYIDELRKALVP
Slime mold LTDLTNVWSSNVTTKYIENIL KPQGMSFDQYFQLLKKSLLK
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.
Type Positions Description
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.