UniProtKB/Swiss-Prot P09874: Variant p.Val762Ala

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

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

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:

From Valine (V) to Alanine (A) at position 762 (V762A, p.Val762Ala). 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 hydrophobic (V) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

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:

Links to websites of interest for the variant.

Variant rs1136410 [ dbSNP | Ensembl ]

Sequence information Variant position:

762 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:

HDFGMKKPPLLNNADSVQAK V EMLDNLLDIEVAYSLLRGGS 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                         HDFGMKKPPLLNNADSVQAKVEMLDNLLDIEVAYSLLRGGS

Mouse                         HDFGMKKPPLLNNADSVQAKVEMLDNLLDIEVAYSLLRGGS

Rat                           HDFGMKKPPLLNNTDSVQAKVEMLDNLLDIEVAYSLLRGGS

Bovine                        HDFGMKKPPLLNNANSVQAKVEMLDNLLDIEVAYSLLRGGS

Chicken                       HDFGMKKPPLLSNLEYIQAKVQMLDNLLDIEVAYSLLRGGN

Zebrafish                     HDFGMKKPPLLSNVDYIQQKVQMLDNLLDIEVAYSLLRGGV

Caenorhabditis elegans        HNFGMRVPEPIDSFHKIKEKNNMLNALLDIKFAYDQISGGD

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
Domain	662 – 779	PARP alpha-helical
Modified residue	782 – 782	Phosphoserine
Cross	748 – 748	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
Cross	748 – 748	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
Mutagenesis	765 – 765	L -> A. Increased auto-poly-ADP-ribosylation.
Mutagenesis	768 – 768	L -> A. Increased auto-poly-ADP-ribosylation.
Mutagenesis	774 – 774	A -> SL. Increased DNA-independent poly-ADP-ribosyltransferase activity.
Helix	755 – 779

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-188; ILE-334; TYR-383; ALA-762 AND ARG-940; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ALA-762;

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.