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UniProtKB/Swiss-Prot Q96FC9: Variant p.Arg263Gln

ATP-dependent DNA helicase DDX11
Gene: DDX11
Chromosomal location: 12p11
Variant information

Variant position:  263
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  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:  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:  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

Involvement in disease:  Warsaw breakage syndrome (WBRS) [MIM:613398]: A syndrome characterized by severe microcephaly, pre- and postnatal growth retardation, facial dysmorphism and abnormal skin pigmentation. Additional features include high arched palate, coloboma of the right optic disk, deafness, ventricular septal defect, toes and fingers abnormalities. At cellular level, drug-induced chromosomal breakage, a feature of Fanconi anemia, and sister chromatid cohesion defects, a feature of Roberts syndrome, coexist. {ECO:0000269|PubMed:20137776, ECO:0000269|PubMed:23033317, ECO:0000269|PubMed:26089203}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  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:  
Links to websites of interest for the variant.



Sequence information

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:   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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         VHEVKKSPFGKDVRLVSLGSRQNLCVNEDVKSLGSVQLIND

Mouse                         VREVLKSPFGKETRLVSLGSRQTLCVNEDVKNLGSVQLMND

Zebrafish                     VHEVQKSPYGDAVRLVNLGSRQNLCINPEVVRLGNVQMMNE

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.

TypePositionsDescription
Chain 1 – 970 ATP-dependent DNA helicase DDX11
Domain 9 – 445 Helicase ATP-binding
Metal binding 267 – 267 Iron-sulfur (4Fe-4S)
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.