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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96LW4: Variant p.Tyr89Asp

DNA-directed primase/polymerase protein
Gene: PRIMPOL
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Variant information Variant position: help 89 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 Aspartate (D) at position 89 (Y89D, p.Tyr89Asp). 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 acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 MYP22; reduced DNA polymerase and DNA primase activities; reduced DNA-binding. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 89 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 560 The length of the canonical sequence.
Location on the sequence: help CKVGDGQRIYLVTTYAEFWF Y YKSRKNLLHCYEVIPENAVC 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                         CKVGD-GQRIYLVTTYAEFWFYYKS--RKNLLHCYEVIPENAVC

Mouse                         CKRGN-GQRIYLVTSYAQLWFYYKT--RKTLLHCYEVIPEN

Bovine                        CKVGD-GQRIYLVTTYTQLWFYYKS--RRNLLHCYEVIPEN

Chicken                       RNTQN-GQRFYLVTTYQELWYYYTKGYKTSLMHCYEVIPEK

Zebrafish                     KEGSDAGQRIFLVTSYSELWHYYST-HRHSLMHCYEVILEG
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 – 560 DNA-directed primase/polymerase protein
Binding site 76 – 76
Mutagenesis 89 – 89 Y -> F. Does not affect DNA primase activity.
Mutagenesis 89 – 89 Y -> S. Reduced DNA primase activity.
Helix 83 – 90



Literature citations
Human PrimPol mutation associated with high myopia has a DNA replication defect.
Keen B.A.; Bailey L.J.; Jozwiakowski S.K.; Doherty A.J.;
Nucleic Acids Res. 42:12102-12111(2014)
Cited for: FUNCTION; CATALYTIC ACTIVITY; CHARACTERIZATION OF VARIANT MYP22 ASP-89; MUTAGENESIS OF TYR-89; Exome sequencing reveals CCDC111 mutation associated with high myopia.
Zhao F.; Wu J.; Xue A.; Su Y.; Wang X.; Lu X.; Zhou Z.; Qu J.; Zhou X.;
Hum. Genet. 132:913-921(2013)
Cited for: VARIANT MYP22 ASP-89;
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.