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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P11161: Variant p.Ile268Asn

E3 SUMO-protein ligase EGR2
Gene: EGR2
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Variant information Variant position: help 268 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Isoleucine (I) to Asparagine (N) at position 268 (I268N, p.Ile268Asn). 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 medium size and hydrophobic (I) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In CHN1; loss of large and small myelinated nerve fibers. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 268 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 476 The length of the canonical sequence.
Location on the sequence: help PFPCPLDTLRVPPPLTPLST I RNFTLGGPSAGVTGPGASGG 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                         PFPCPLDTLRVPPPLTPLSTIRNFTLGGPSAGVTGPGASGG

Mouse                         PFPCPLDSLRVPPPLTPLSTIRNFTLGGPGAGVTGPGASGG

Rat                           PFPCPLDSLRVPPPLTPLSTIRNFTLGGPSAGVTGPGASGG

Pig                           PFPCPLDSLRVPPPLTPLSTIRNFTLGGPSAGTTGPGASGG

Xenopus laevis                PFPCP----RHP---SPLSTIRNFTLGGSS-----------
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 1 – 476 E3 SUMO-protein ligase EGR2



Literature citations
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.
Warner L.E.; Mancias P.; Butler I.J.; McDonald C.M.; Keppen L.; Koob K.G.; Lupski J.R.;
Nat. Genet. 18:382-384(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG); VARIANTS CHN1 ASN-268 AND 382-SER-ASP-383 DELINS ARG-TYR; VARIANT CMT1D TRP-409; Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.
Szigeti K.; Wiszniewski W.; Saifi G.M.; Sherman D.L.; Sule N.; Adesina A.M.; Mancias P.; Papasozomenos S.C.; Miller G.; Keppen L.; Daentl D.; Brophy P.J.; Lupski J.R.;
Neurogenetics 8:257-262(2007)
Cited for: VARIANT DSS LYS-412; CHARACTERIZATION OF VARIANTS CHN1 ASN-268; CHARACTERIZATION OF VARIANTS DSS TRP-359 AND LYS-412; CHARACTERIZATION OF VARIANTS CMT1D TRP-359; FUNCTION;
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.