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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96FC9: Variant p.Arg263Gln

ATP-dependent DNA helicase DDX11
Gene: DDX11
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Variant information Variant position: help 263 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Arginine (R) to Glutamine (Q) at position 263 (R263Q, p.Arg263Gln). 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 large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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
Variant description: help In WBRS; impairs the helicase activity by perturbing its DNA binding and DNA-dependent ATPase activity; reduces binding to rDNA promoter and promotion of rDNA transcription. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 263 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 970 The length of the canonical sequence.
Location on the sequence: help VHEVKKSPFGKDVRLVSLGS R QNLCVNEDVKSLGSVQLIND 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                         VHEVKKSPFGKDVRLVSLGSRQNLCVNEDVKSLGSVQLIND

Mouse                         VREVLKSPFGKETRLVSLGSRQTLCVNEDVKNLGSVQLMND

Zebrafish                     VHEVQKSPYGDAVRLVNLGSRQNLCINPEVVRLGNVQMMNE
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 – 970 ATP-dependent DNA helicase DDX11
Domain 9 – 445 Helicase ATP-binding
Binding site 267 – 267
Modified residue 262 – 262 Phosphoserine
Alternative sequence 214 – 288 VDEDEDDLEEEHITKIYYCSRTHSQLAQFVHEVKKSPFGKDVRLVSLGSRQNLCVNEDVKSLGSVQLINDRCVDM -> APSDATSSRHPPDASFPAALNFLQRTRPSSVLSEDLLMQRAVAKHPALLPWQMSSSPLRPGSEWMRMRMTWRKNT. In isoform 5.



Literature citations
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;
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.