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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60832: Variant p.Glu206Lys

H/ACA ribonucleoprotein complex subunit DKC1
Gene: DKC1
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Variant information Variant position: help 206 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 Glutamate (E) to Lysine (K) at position 206 (E206K, p.Glu206Lys). 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 medium size and acidic (E) to large size and basic (K) 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 CHINE1; likely pathogenic; decreased rRNA pseudouridine synthesis in peripheral blood cells from a severely affected female; unable to fully rescue developmental defects in dkc1-null zebrafish morphants; does not affect interaction with NOP10. Any additional useful information about the variant.


Sequence information Variant position: help 206 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 514 The length of the canonical sequence.
Location on the sequence: help LIAAVKRQLRVRTIYESKMI E YDPERRLGIFWVSCEAGTYI 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                         LIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYI

Mouse                         LIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYI

Rat                           LIAAVKRQLRVRTIYESRVVEYDPERRLGVFWVSCEAGTYI

Chicken                       LIAAVKRQLRVRTIYESKLVEYDPERRLGIFWVSCEAGTYI

Zebrafish                     LIAAVKRQLRVRTIYESKLIEYDPERRLGIFWVSCEAGTYI

Caenorhabditis elegans        LISAVKRQLRIRTVYENKFIEYDPAQQMGIFNCICESGTYV

Drosophila                    LISAVKRQLRVRTVYDSKLLDYDETRNMGVFWVSCEAGSYI

Slime mold                    QKSAVKKRLRVRTIHNSKLLEFDPERNLGLIWVDCEAGTYI
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 2 – 514 H/ACA ribonucleoprotein complex subunit DKC1
Cross 191 – 191 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Beta strand 195 – 208



Literature citations
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Balogh E.; Chandler J.C.; Varga M.; Tahoun M.; Menyhard D.K.; Schay G.; Goncalves T.; Hamar R.; Legradi R.; Szekeres A.; Gribouval O.; Kleta R.; Stanescu H.; Bockenhauer D.; Kerti A.; Williams H.; Kinsler V.; Di W.L.; Curtis D.; Kolatsi-Joannou M.; Hammid H.; Szocs A.; Perczel K.; Maka E.; Toldi G.; Sava F.; Arrondel C.; Kardos M.; Fintha A.; Hossain A.; D'Arco F.; Kaliakatsos M.; Koeglmeier J.; Mifsud W.; Moosajee M.; Faro A.; Javorszky E.; Rudas G.; Saied M.H.; Marzouk S.; Kelen K.; Goetze J.; Reusz G.; Tulassay T.; Dragon F.; Mollet G.; Motameny S.; Thiele H.; Dorval G.; Nuernberg P.; Perczel A.; Szabo A.J.; Long D.A.; Tomita K.; Antignac C.; Waters A.M.; Tory K.;
Proc. Natl. Acad. Sci. U.S.A. 117:15137-15147(2020)
Cited for: VARIANT CHINE1 LYS-206; INVOLVEMENT IN CHINE1; CHARACTERIZATION OF VARIANT CHINE1 LYS-206; FUNCTION;
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.