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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P09874: Variant p.Ala188Thr

Poly [ADP-ribose] polymerase 1
Gene: PARP1
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Variant information Variant position: help 188 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 Alanine (A) to Threonine (T) at position 188 (A188T, p.Ala188Thr). 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 small size and hydrophobic (A) to medium size and polar (T) 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 188 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 EELGFRPEYSASQLKGFSLL A TEDKEALKKQLPGVKSEGKR 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                         EELGFRPEYSASQL--KGFSLLATEDKEALKKQLPGVKSEGKR

Mouse                         DELGFRPEYSASQL--KGFSLLSAEDKEALKKQLPAIKNEG

Rat                           DELGFRPEYSASQL--KGFSLLSAEDKEALKKQLPAVKSEG

Bovine                        EELGFRPEFSATHL--MGFSVLTAEDQETLKKQLPAIKGER

Chicken                       AELGFLPAYGATQL--LGFSILKAEDKETLKKQLPATKTEG

Zebrafish                     EELIFKPEYSAAQL--KGFAVLRDEDKEELKKRLPAVKSEG

Caenorhabditis elegans        STEPATPASASPTPPEAETPVLSAEGSPESSNKRPASSEII

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 113 – 203 PARP-type 2
Modified residue 177 – 177 Phosphoserine
Modified residue 179 – 179 Phosphoserine
Modified residue 185 – 185 Phosphoserine
Cross 192 – 192 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Cross 203 – 203 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
Cross 203 – 203 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate



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.