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UniProtKB/Swiss-Prot Q9Y253: Variant p.Met647Leu

DNA polymerase eta
Gene: POLH
Variant information

Variant position:  647
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 Methionine (M) to Leucine (L) at position 647 (M647L, p.Met647Leu).
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:  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

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  647
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  713
The length of the canonical sequence.

Location on the sequence:   LAAEDQVPCEKCGSLVPVWD  M PEHMDYHFALELQKSFLQPH
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.

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
Chain 1 – 713 DNA polymerase eta
Zinc finger 628 – 662 UBZ3-type
Metal binding 635 – 635 Zinc
Metal binding 638 – 638 Zinc
Metal binding 650 – 650 Zinc; via tele nitrogen
Metal binding 654 – 654 Zinc; via tele nitrogen
Alternative sequence 415 – 713 Missing. In isoform 2.
Mutagenesis 638 – 638 C -> A. Reduces cell resistance to UV-induced DNA damage.
Mutagenesis 652 – 652 D -> A. Abolishes ubiquitin binding and localization to nuclear foci after UV-induced DNA damage but does not affect catalytic activity.
Helix 647 – 659


Literature citations

Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-209; TRP-334; MET-478; PRO-584; VAL-595 AND LEU-647;

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.