Home  |  Contact

UniProtKB/Swiss-Prot P11161: Variant p.Glu412Gly

E3 SUMO-protein ligase EGR2
Gene: EGR2
Variant information

Variant position:  412
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Glutamate (E) to Glycine (G) at position 412 (E412G, p.Glu412Gly).
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 medium size and acidic (E) to glycine (G)
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

Variant description:  In CMT1D; loss of myelinated and unmyelinated nerve fibers.
Any additional useful information about the variant.

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

Sequence information

Variant position:  412
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  476
The length of the canonical sequence.

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.






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.

Chain 1 – 476 E3 SUMO-protein ligase EGR2
Zinc finger 398 – 420 C2H2-type 3
Region 412 – 476 Disordered

Literature citations

Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype--usefulness of human mapping chip linkage analysis in a Czech family.
Safka Brozkova D.; Nevsimalova S.; Mazanec R.; Rautenstrauss B.; Seeman P.;
Neuromuscul. Disord. 22:742-746(2012)
Cited for: VARIANT CMT1D GLY-412;

A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene.
Tozza S.; Magri S.; Pennisi E.M.; Schirinzi E.; Pisciotta C.; Balistreri F.; Severi D.; Ricci G.; Siciliano G.; Taroni F.; Santoro L.; Manganelli F.;
J. Peripher. Nerv. Syst. 24:219-223(2019)

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.