Variant position: 43 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:
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 SWEKTLESGFVITLTDGHSA WTGTVSESEISQEADDMAMEK
Mouse SWERAIGSGFVITLTDGHSA WTATVSELEISQEADDMAMEK
Slime mold NWQY---NSFTIYLTDLTNV WSSNVTTKYIENILKPQGMSF
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
1 – 336 DNA repair protein XRCC4
1 – 213 Interaction with IFFO1
53 – 53 Phosphoserine; by PRKDC
26 – 26 K -> E. Abolished interaction with NHEJ1/XLF; when associated with E-99.
55 – 55 E -> R. Abolished interaction with NHEJ1/XLF.
58 – 58 D -> R. Abolished interaction with NHEJ1/XLF.
61 – 61 M -> R. Abolished interaction with NHEJ1/XLF.
62 – 62 E -> R. Does not affect interaction with NHEJ1/XLF.
42 – 48
Genomic analysis of primordial dwarfism reveals novel disease genes.
Shaheen R.; Faqeih E.; Ansari S.; Abdel-Salam G.; Al-Hassnan Z.N.; Al-Shidi T.; Alomar R.; Sogaty S.; Alkuraya F.S.;
Genome Res. 24:291-299(2014)
Cited for: INVOLVEMENT IN SSMED; VARIANT SSMED ARG-43;
Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
Murray J.E.; van der Burg M.; Ijspeert H.; Carroll P.; Wu Q.; Ochi T.; Leitch A.; Miller E.S.; Kysela B.; Jawad A.; Bottani A.; Brancati F.; Cappa M.; Cormier-Daire V.; Deshpande C.; Faqeih E.A.; Graham G.E.; Ranza E.; Blundell T.L.; Jackson A.P.; Stewart G.S.; Bicknell L.S.;
Am. J. Hum. Genet. 96:412-424(2015)
Cited for: VARIANTS SSMED ARG-43; 161-ARG--ILE-336 DEL; 225-ARG--ILE-336 DEL AND 275-ARG--ILE-336 DEL;
XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.
Guo C.; Nakazawa Y.; Woodbine L.; Bjoerkman A.; Shimada M.; Fawcett H.; Jia N.; Ohyama K.; Li T.S.; Nagayama Y.; Mitsutake N.; Pan-Hammarstroem Q.; Gennery A.R.; Lehmann A.R.; Jeggo P.A.; Ogi T.;
J. Allergy Clin. Immunol. 136:1007-1017(2015)
Cited for: VARIANTS SSMED ARG-43 AND 225-ARG--ILE-336 DEL; CHARACTERIZATION OF VARIANT SSMED ARG-43;
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.