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UniProtKB/Swiss-Prot Q9NR33: Variant p.Gly17Val

DNA polymerase epsilon subunit 4
Gene: POLE4
Variant information

Variant position:  17
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 Glycine (G) to Valine (V) at position 17 (G17V, p.Gly17Val).
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 glycine (G) to medium size and hydrophobic (V)
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.



Sequence information

Variant position:  17
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  117
The length of the canonical sequence.

Location on the sequence:   MAAAAAAGSGTPREEE  G PAGEAAASQPQAPTSVPGAR
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                         MAAAAAAGSGTPRE--EEGPAGEAAASQPQAPTSVP----------GA-R

Mouse                         MAAAAAAGSGTPRE--EEAPGGEAAASQAQAPTSAP-

Bovine                        -MAAAAPGSGAARE--EEGTGGDAATPQPPAPTSAP-

Drosophila                    TEEAELAETEEPLEITEESPDNPEAESTTEQLTEKPV

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
Initiator methionine 1 – 1 Removed
Chain 2 – 117 DNA polymerase epsilon subunit 4
Region 1 – 36 Disordered
Modified residue 2 – 2 N-acetylalanine
Modified residue 11 – 11 Phosphothreonine
Modified residue 25 – 25 Phosphoserine


Literature citations

Identification and cloning of two histone fold motif-containing subunits of HeLa DNA polymerase epsilon.
Li Y.; Pursell Z.F.; Linn S.;
J. Biol. Chem. 275:23247-23252(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; FUNCTION; IDENTIFICATION IN EPSILON DNA POLYMERASE COMPLEX; VARIANT VAL-17;

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 VAL-17;

ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.
Matsuoka S.; Ballif B.A.; Smogorzewska A.; McDonald E.R. III; Hurov K.E.; Luo J.; Bakalarski C.E.; Zhao Z.; Solimini N.; Lerenthal Y.; Shiloh Y.; Gygi S.P.; Elledge S.J.;
Science 316:1160-1166(2007)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-25; VARIANT [LARGE SCALE ANALYSIS] VAL-17; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

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.