Variant position: 263 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 970 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 VHEVKKSPFGKDVRLVSLGS RQNLCVNEDVKSLGSVQLIND
Mouse VREVLKSPFGKETRLVSLGS RQTLCVNEDVKNLGSVQLMND
Zebrafish VHEVQKSPYGDAVRLVNLGS RQNLCINPEVVRLGNVQMMNE
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 – 970 ATP-dependent DNA helicase DDX11
9 – 445 Helicase ATP-binding
267 – 267 Iron-sulfur (4Fe-4S)
262 – 262 Phosphoserine
214 – 288 VDEDEDDLEEEHITKIYYCSRTHSQLAQFVHEVKKSPFGKDVRLVSLGSRQNLCVNEDVKSLGSVQLINDRCVDM -> APSDATSSRHPPDASFPAALNFLQRTRPSSVLSEDLLMQRAVAKHPALLPWQMSSSPLRPGSEWMRMRMTWRKNT. In isoform 5.
The Warsaw breakage syndrome-related protein DDX11 is required for ribosomal RNA synthesis and embryonic development.
Sun X.; Chen H.; Deng Z.; Hu B.; Luo H.; Zeng X.; Han L.; Cai G.; Ma L.;
Hum. Mol. Genet. 24:4901-4915(2015)
Cited for: FUNCTION; CATALYTIC ACTIVITY; INTERACTION WITH POLR1A AND UBTF; SUBCELLULAR LOCATION; INDUCTION; VARIANT WBRS GLN-263; CHARACTERIZATION OF VARIANT WBRS GLN-263;
Identification and biochemical characterization of a novel mutation in DDX11 causing warsaw breakage syndrome.
Capo-Chichi J.M.; Bharti S.K.; Sommers J.A.; Yammine T.; Chouery E.; Patry L.; Rouleau G.A.; Samuels M.E.; Hamdan F.F.; Michaud J.L.; Brosh R.M. Jr.; Megarbane A.; Kibar Z.;
Hum. Mutat. 34:103-107(2013)
Cited for: VARIANT WBRS GLN-263; CHARACTERIZATION OF VARIANT WBRS GLN-263;
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.