UniProtKB/Swiss-Prot P09874: Variant p.Glu488Val

Poly [ADP-ribose] polymerase 1
Gene: PARP1
Chromosomal location: 1q41-q42
Variant information

Variant position:  488
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glutamate (E) to Valine (V) at position 488 (E488V, p.Glu488Val).
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:  Change from medium size and acidic (E) to medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In a breast cancer sample; somatic mutation.
Any additional useful information about the variant.



Sequence information

Variant position:  488
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1014
The length of the canonical sequence.

Location on the sequence:   SLQELFLAHILSPWGAEVKA  E PVEVVAPRGKSGAALSKKSK
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         SLQELFLAHILSPWGAEVKAEPVEVVAPRGKSGAALSKKSK

Mouse                         SLQDLLSAHSLSPWGAEVKAEPGEVVAPRGKS-AAPSKKSK

Rat                           SLQELLSAHSLSSWGAEVKVEPGEVVVPKGKS-AAPSKKSK

Bovine                        SLQELLSTHLLSPWGAEVKVEPVEAVGPKGKSGAAPSKKSK

Chicken                       GFQELLSLHAISPWGAEVKTEHQEVAV-DGKCSKPANMKSA

Sequence annotation in neighborhood:  
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
Region 373 – 524 Automodification domain
Modified residue 471 – 471 PolyADP-ribosyl glutamic acid
Modified residue 484 – 484 PolyADP-ribosyl glutamic acid
Modified residue 488 – 488 PolyADP-ribosyl glutamic acid
Modified residue 491 – 491 PolyADP-ribosyl glutamic acid
Modified residue 499 – 499 ADP-ribosylserine
Modified residue 507 – 507 ADP-ribosylserine
Cross 486 – 486 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
Cross 486 – 486 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Mutagenesis 499 – 499 S -> A. Abolishes automodification on serine following interaction with HPF1; when associated with A-507 and A-519.
Mutagenesis 507 – 507 S -> A. Abolishes automodification on serine following interaction with HPF1; when associated with A-499 and A-519.


Literature citations

The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-488;

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.