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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q6P4I2: Variant p.Arg96Lys

Integrator complex assembly factor WDR73
Gene: WDR73
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Variant information Variant position: help 96 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 Lysine (K) at position 96 (R96K, p.Arg96Lys). 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 Similar physico-chemical property. Both residues are large size and basic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 2 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 GAMOS1; does not affect interaction with INTS9 and INTS11. Any additional useful information about the variant.


Sequence information Variant position: help 96 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 378 The length of the canonical sequence.
Location on the sequence: help VRHGGFSDRSIFDLKHVPHT R LLVTSGLPGCYLQVWQVAED 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                         VRHGGFSDRSIFDLKHVPHTRLLVTSGLPGCYLQVWQVA-ED

Mouse                         VRHGGFSDRSVFDLKHVPDTRLLVTSGLPGCYIQMWQVR-E

Xenopus laevis                VEHGGFIDEPVYSLKHIPQSSLIVTSGPASCPLWVWQIGPE

Zebrafish                     VKHGGFSEEPVECLIHIPGTRCLVTSGNSNT-LQIWDIGGD
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 – 378 Integrator complex assembly factor WDR73
Repeat 73 – 113 WD 1



Literature citations
Assembly mechanism of Integrator's RNA cleavage module.
Sabath K.; Qiu C.; Jonas S.;
Mol. Cell 84:2882-2899(2024)
Cited for: STRUCTURE BY ELECTRON MICROSCOPY (3.20 ANGSTROMS) IN COMPLEX WITH BRAT1; INTS9 AND INTS11; FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH BRAT1; INTS9 AND INTS11; MUTAGENESIS OF LEU-8; CHARACTERIZATION OF VARIANTS GAMOS1 GLN-23; LYS-96 AND GLY-371;
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
Vodopiutz J.; Seidl R.; Prayer D.; Khan M.I.; Mayr J.A.; Streubel B.; Steiss J.O.; Hahn A.; Csaicsich D.; Castro C.; Assoum M.; Mueller T.; Wieczorek D.; Mancini G.M.; Sadowski C.E.; Levy N.; Megarbane A.; Godbole K.; Schanze D.; Hildebrandt F.; Delague V.; Janecke A.R.; Zenker M.;
Hum. Mutat. 36:1021-1028(2015)
Cited for: VARIANTS GAMOS1 GLN-23; LYS-96; 314-GLN--ARG-378 DEL AND TYR-347;
Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.
Rosti R.O.; Dikoglu E.; Zaki M.S.; Abdel-Salam G.; Makhseed N.; Sese J.C.; Musaev D.; Rosti B.; Harbert M.J.; Jones M.C.; Vaux K.K.; Gleeson J.G.;
Am. J. Med. Genet. A 170A:992-998(2016)
Cited for: VARIANTS GAMOS1 LYS-96 AND GLU-201;
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.