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UniProtKB/Swiss-Prot P18858: Variant p.Gly249Glu

DNA ligase 1
Gene: LIG1
Variant information

Variant position:  249
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 Glutamate (E) at position 249 (G249E, p.Gly249Glu).
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 acidic (E)
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:  249
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  919
The length of the canonical sequence.

Location on the sequence:   SSFFTPRKPAVKKEVKEEEP  G APGKEGAAEGPLDPSGYNPA
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                         SSFFTPRKPAVKKEVKE-------------EEPGAPGKE-------GAAEGPLDPSGYNPA

Mouse                         SSFFTPRKPAVKTEVKQ-------------EESGTLRKE--

Rat                           SSFFTPRKPAVKTEVKQ-------------EESDTPRKE--

Xenopus laevis                SSFFAPRKPAIKTEKREENLNEKNVTETSLEESPKPKKNVG

Caenorhabditis elegans        -----------------------------------------

Drosophila                    STAAT------------------------------------

Slime mold                    STATTISSKSISSPSKKEEKEVITSKKQVEATKVEVKKEKE

Baker's yeast                 SIPSSAPSSGVADSPQQ------------------------

Fission yeast                 SGASTPIPLPIKEPPLE------------------------

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 – 919 DNA ligase 1
Region 1 – 270 Disordered
Compositional bias 237 – 252 Basic and acidic residues
Modified residue 229 – 229 Phosphoserine
Modified residue 230 – 230 Phosphoserine
Modified residue 233 – 233 Phosphothreonine


Literature citations

Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-24; TRP-62; GLU-249; SER-267; MET-349; ILE-369; VAL-480; ILE-614 AND LEU-677;

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.