UniProtKB/Swiss-Prot P09874: Variant p.Glu488Val

Poly [ADP-ribose] polymerase 1
Gene: PARP1
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Variant information Variant position:

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

US 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:

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

Zebrafish                     ALQELISLHAISPWGAEVKVEAPAAAA-ATKSTGAHSSKST

Caenorhabditis elegans        GEQFIYAAEAFDS-TNNVPIKVGDLTSTNTHI---------

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.

Type	Positions	Description
Chain	2 – 1014	Poly [ADP-ribose] polymerase 1
Chain	215 – 1014	Poly [ADP-ribose] polymerase 1, processed C-terminus
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	504 – 504	ADP-ribosylserine
Modified residue	507 – 507	ADP-ribosylserine
Cross	486 – 486	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
Cross	486 – 486	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
Mutagenesis	499 – 499	S -> A. Abolishes automodification on serine following interaction with HPF1, leading to delay dissociation from chromatin; when associated with A-507 and A-519.
Mutagenesis	507 – 507	S -> A. Abolishes automodification on serine following interaction with HPF1, leading to delay dissociation from chromatin; 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.