UniProtKB/Swiss-Prot P09874: Variant p.Val334Ile

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

334 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 Isoleucine (I) at position 334 (V334I, p.Val334Ile). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

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
Other resources:

Links to websites of interest for the variant.

Variant rs3219057 [ dbSNP | Ensembl ]

Sequence information Variant position:

334 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:

DVTAWTKCMVKTQTPNRKEW V TPKEFREISYLKKLKVKKQD 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                         DVTAWTKCMVKTQTPNRKEWVTPKEFREISYLKKLKVKKQD

Mouse                         DVTAWTKCMVKTQNPSRKEWVTPKEFREISYLKKLKVKKQD

Rat                           DVTAWTKCMVKTQNPSRKEWVTPKEFREISYLKKLKIKKQD

Bovine                        DVTAWTKCMVKTQTPNRKEWVTPKEFREISYFKKLKIKKQD

Chicken                       DITAWTKCVAKTQTPNRKDWVIPKEFREIPYLKKFKCKKQD

Zebrafish                     DISAWTKCVFKTQTPDRKDWVTPKEFSEIPFLKKFKFKRQD

Caenorhabditis elegans        YATEYSKCTYESKNPIRTPFEVSHRLTE-------KHKLQD

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	225 – 359	PADR1 zinc-binding
Binding site	321 – 321
Mutagenesis	314 – 314	D -> A. Does not affect auto-poly-ADP-ribosylation.
Mutagenesis	315 – 315	V -> A. Does not affect auto-poly-ADP-ribosylation.
Mutagenesis	316 – 316	T -> A. Strongly reduced poly-ADP-ribosyltransferase and ability to regulate chromatin compaction.
Mutagenesis	317 – 317	A -> G. Does not affect auto-poly-ADP-ribosylation.
Mutagenesis	318 – 318	W -> ARE. Strongly reduced poly-ADP-ribosyltransferase activity. Able to bind damaged DNA, however, defects in the interdomain communication prevent unfolding of the PARP alpha-helical domain, blocking catalytic activation.
Mutagenesis	318 – 318	W -> F. Does not affect auto-poly-ADP-ribosylation.
Mutagenesis	319 – 319	T -> A. Does not affect auto-poly-ADP-ribosylation.
Mutagenesis	320 – 320	K -> A. Does not affect auto-poly-ADP-ribosylation.
Mutagenesis	325 – 325	T -> A. Does not affect translocation into the cytosol.

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-188; ILE-334; TYR-383; ALA-762 AND ARG-940;

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.