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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P09874: Variant p.Phe54Leu

Poly [ADP-ribose] polymerase 1
Gene: PARP1
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Variant information Variant position: help 54 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Phenylalanine (F) to Leucine (L) at position 54 (F54L, p.Phe54Leu). 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 (F) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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

Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 54 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1014 The length of the canonical sequence.
Location on the sequence: help RMAIMVQSPMFDGKVPHWYH F SCFWKVGHSIRHPDVEVDGF 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                         RMAIMVQSPMFDGKVPHWYHFSCFWKVGHSIRHPDVEVD---GF

Mouse                         RMAIMVQSPMFDGKVPHWYHFSCFWKVGQSIRHPDVEVD--

Rat                           RMAIMVQSPMFDGKVPHWYHFSCFWKVGHSIRQPDTEVD--

Bovine                        RMAFMVESPMFDGKIPHWYHLSCFWKVGFSIWHPDVEVE--

Chicken                       RLALMVQSPMFDGKVPHWHHYSCFWKRARIVSHTD--ID--

Zebrafish                     RMAIMVQSPMFDGKVPHWHHFSCFWLRAAVQSPSD--IS--

Caenorhabditis elegans        RMSMNRPSTFFDGNMDSWFHYNCFWIK-MIRGRDDINISSI

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 – 1014 Poly [ADP-ribose] polymerase 1
Chain 2 – 214 Poly [ADP-ribose] polymerase 1, processed N-terminus
Zinc finger 9 – 93 PARP-type 1
Binding site 53 – 53
Binding site 56 – 56
Modified residue 41 – 41 Phosphoserine
Mutagenesis 34 – 34 R -> A. Abolished DNA-binding.
Mutagenesis 34 – 34 R -> E. Abolished binding to DNA strand breaks.
Mutagenesis 40 – 40 Q -> A. Does not affect DNA-binding.
Mutagenesis 41 – 41 S -> A. No effect.
Mutagenesis 42 – 42 P -> G. No effect.
Mutagenesis 43 – 43 M -> A. No effect.
Mutagenesis 43 – 43 M -> D. Strongly decreased homodimerization.
Mutagenesis 44 – 44 F -> A. Abolished DNA-binding.
Mutagenesis 44 – 44 F -> D. Strongly decreased homodimerization.
Mutagenesis 45 – 45 D -> A. Does not affect DNA-binding. Decreased poly-ADP-ribosyltransferase activity.
Helix 54 – 59



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.