Sequence information
Variant position: 161 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:
NEHLQKENERLLRDWNDVQG
R FEKCVSAKEALETDLYKRFI
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 NEHLQKENERLLRDWNDVQGR FEKCVSAKEALETDLYKRFI
Mouse NEHLQKENERLLRDWNDVQGR FEKCVSAKEALEADLYQRFI
Slime mold NQTLTLQTQSLQSQFNQSLEQ NKLFQLEKDRIESNLIEKFI
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
Coiled coil
131 – 165
Mutagenesis
170 – 170
E -> A. Abolished DNA-binding.
Literature citations
Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.
Rosin N.; Elcioglu N.H.; Beleggia F.; Isgueven P.; Altmueller J.; Thiele H.; Steindl K.; Joset P.; Rauch A.; Nuernberg P.; Wollnik B.; Yigit G.;
Hum. Mol. Genet. 24:3708-3717(2015)
Cited for: VARIANTS SSMED GLN-161 AND 275-ARG--ILE-336 DEL; CHARACTERIZATION OF VARIANT SSMED GLN-161;
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.