Sequence information
Variant position: 381 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:
IRIHTGHKPFQCRICMRNFS
R SDHLTTHIRTHTGEKPFACD
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 IRIHTGHKPFQCRICMRNFSR SDHLTTHIRTHTGEKPFACD
Mouse IRIHTGHKPFQCRICMRNFSR SDHLTTHIRTHTGEKPFACD
Rat IRIHTGHKPFQCRICMRNFSR SDHLTTHIRTHTGEKPFACD
Pig IRIHTGHKPFQCRICMRNFSR SDHLTTHIRTHTGEKPFACD
Xenopus laevis IRIHTGHKPFQCRICMRNFSR SDHLTTHIRTHTGEKPFACD
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
Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.
Pareyson D.; Taroni F.; Botti S.; Morbin M.; Baratta S.; Lauria G.; Ciano C.; Sghirlanzoni A.;
Neurology 54:1696-1698(2000)
Cited for: VARIANT CMT1D HIS-381;
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.