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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UK59: Variant p.Tyr67Cys

Lariat debranching enzyme
Gene: DBR1
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Variant information Variant position: help 67 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 Tyrosine (Y) to Cysteine (C) at position 67 (Y67C, p.Tyr67Cys). 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 aromatic (Y) to medium size and polar (C) 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 XGIP; likely pathogenic; results in decreased function in lariat intron processing and lariant accumulation in homozygous patient cells; severely reduced protein abundance in homozygous patient cells. Any additional useful information about the variant.


Sequence information Variant position: help 67 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 544 The length of the canonical sequence.
Location on the sequence: help ADLRCMAVPPKYRHMQTFYR Y YSGEKKAPVLTLFIGGNHEA 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                         ADLRCMAVPPKYRHMQTFYRYYSGEKKAPVLTLFIGGNHEA

Mouse                         ADLRCMAVPPKYRHMQTFYRYYSGEKKAPVLTIFIGGNHEA

Chicken                       ADLRCMAVPAKYRHMQTFYRYYSGEKKAPVLTVFIGGNHEA

Xenopus tropicalis            GDMKCMAVPQKYRQMQTFYKYYSGEKLAPILTIFIGGNHEA

Zebrafish                     GDMKCMAVPAKYRHMQTFYKYYSGEKKAPVLTIFIGGNHEA

Caenorhabditis elegans        GDLPHMSIPPKYRSLQTFYKYYSGEQKAPVLTLFIGGNHEA

Drosophila                    EDLQTMAVPKKYLDMCSFYKYYSGELVAPVLTIFIGGNHEA

Baker's yeast                 QDFKSIAIPPKYQRLGDFISYYNNEIEAPVPTIFIGGNHES

Fission yeast                 SDYHGISMPPKFKRLGDFFNYYNGRNKAPILTIFVGGNHEA
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 – 544 Lariat debranching enzyme
Binding site 84 – 84
Alternative sequence 1 – 232 Missing. In isoform 2.
Mutagenesis 85 – 85 H -> N. No effect on protein abundance. Loss of RNA lariat debranching enzyme activity.



Literature citations
A founder DBR1 variant causes a lethal form of congenital ichthyosis.
Shamseldin H.E.; Sadagopan M.; Martini J.; Al-Ali R.; Radefeldt M.; Ataei M.; Lemke S.; Rahbeeni Z.; Al Mutairi F.; Ababneh F.; Alrukban H.A.; Abdulwahab F.; Alhajj S.M.; Bauer P.; Bertoli-Avella A.; Alkuraya F.S.;
Hum. Genet. 142:1491-1498(2023)
Cited for: VARIANT XGIP CYS-67; CHARACTERIZATION OF VARIANT XGIP CYS-67;
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.