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:
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 IRIHTGHKPFQCRICMRNFS RSDHLTTHIRTHTGEKPFACD
Mouse IRIHTGHKPFQCRICMRNFS RSDHLTTHIRTHTGEKPFACD
Rat IRIHTGHKPFQCRICMRNFS RSDHLTTHIRTHTGEKPFACD
Pig IRIHTGHKPFQCRICMRNFS RSDHLTTHIRTHTGEKPFACD
Xenopus laevis IRIHTGHKPFQCRICMRNFS RSDHLTTHIRTHTGEKPFACD
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
1 – 476 E3 SUMO-protein ligase EGR2
370 – 392 C2H2-type 2
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.;
Cited for: VARIANT CMT1D HIS-381;
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