Sequence information
Variant position: 383 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 476 The length of the canonical sequence.
Location on the sequence:
IHTGHKPFQCRICMRNFSRS
D HLTTHIRTHTGEKPFACDYC
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 IHTGHKPFQCRICMRNFSRSD HLTTHIRTHTGEKPFACDYC
Mouse IHTGHKPFQCRICMRNFSRSD HLTTHIRTHTGEKPFACDYC
Rat IHTGHKPFQCRICMRNFSRSD HLTTHIRTHTGEKPFACDYC
Pig IHTGHKPFQCRICMRNFSRSD HLTTHIRTHTGEKPFACDYC
Xenopus laevis IHTGHKPFQCRICMRNFSRSD HLTTHIRTHTGEKPFACDYC
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.
Type Positions Description
Chain
1 – 476
E3 SUMO-protein ligase EGR2
Zinc finger
370 – 392
C2H2-type 2
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-ARG-TYR-383; VARIANT CMT1D TRP-409;
Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1.
Numakura C.; Shirahata E.; Yamashita S.; Kanai M.; Kijima K.; Matsuki T.; Hayasaka K.;
J. Neurol. Sci. 210:61-64(2003)
Cited for: VARIANT CMT1D TYR-383;
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.