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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q16531: Variant p.Glu213Lys

DNA damage-binding protein 1
Gene: DDB1
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Variant information Variant position: help 213 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 213 (E213K, p.Glu213Lys). 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 WHIKERS. Any additional useful information about the variant.


Sequence information Variant position: help 213 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1140 The length of the canonical sequence.
Location on the sequence: help YEVSLREKEFNKGPWKQENV E AEASMVIAVPEPFGGAIIIG 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                         YEVSLREKEFNKGPWKQENVEAEASMVIAVPEPFGGAIIIG

Mouse                         YEVSLREKEFNKGPWKQENVEAEASMVIAVPEPFGGAIIIG

Rat                           YEVSLREKEFNKGPWKQENVEAEASMVIAVPEPFGGAIIIG

Bovine                        YEVSLREKEFNKGPWKQENVEAEASMVIAVPEPFGGAIIIG

Chicken                       YEVSLREKEFNKGPWKQENVEAEASMVIAVPEPFGGAIIIG

Xenopus laevis                YEVSLREKEFSKGPWKQENVEAEASMVIAVPEPFGGAIIIG

Caenorhabditis elegans        SDLNMHDKEFRTYS-RQASIAADSSVLIPVPHAIGGVIVLG

Drosophila                    HEINLRDKEFMKIAWKQDNVETEATMLIPVPSPIGGVIVIG

Slime mold                    YEISSKDTELVVGPWSQSNVGVYSSLLVPVPL--GGVLVVA

Fission yeast                 YKINVREQEIDEDDVVCHDIEEGK----LIPSENGGVFVFG
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 – 1140 DNA damage-binding protein 1
Region 2 – 768 Interaction with CDT1
Region 13 – 356 WD repeat beta-propeller A
Alternative sequence 71 – 759 Missing. In isoform 2.



Literature citations
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
White S.M.; Bhoj E.; Nellaaker C.; Lachmeijer A.M.A.; Marshall A.E.; Boycott K.M.; Li D.; Smith W.; Hartley T.; McBride A.; Ernst M.E.; May A.S.; Wieczorek D.; Abou Jamra R.; Koch-Hogrebe M.; Ounap K.; Pajusalu S.; van Gassen K.L.I.; Sadedin S.; Ellingwood S.; Tan T.Y.; Christodoulou J.; Barea J.; Lockhart P.J.; Nezarati M.M.; Kernohan K.D.;
Am. J. Hum. Genet. 108:749-756(2021)
Cited for: VARIANTS WHIKERS 184-ASP--GLN-186 DEL; GLN-188; TRP-188; LYS-213 AND VAL-429; INVOLVEMENT IN WHIKERS;
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.