Variant position: 130 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 382 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 KMTKARLERSKLRRQKANAR ERNRMHDLNAALDNLRKVVPC
Mouse KMTKARLERSKLRRQKANAR ERNRMHDLNAALDNLRKVVPC
Rat KMTKARLERSKLRRQKANAR ERNRMHDLNAALDNLRKVVPC
Zebrafish KMTPARLERSKVRRQKANAR ERTRMHDLNSALDNLLKVVPC
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 – 382 Neurogenic differentiation factor 2
121 – 173 bHLH
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.
Sega A.G.; Mis E.K.; Lindstrom K.; Mercimek-Andrews S.; Ji W.; Cho M.T.; Juusola J.; Konstantino M.; Jeffries L.; Khokha M.K.; Lakhani S.A.;
J. Med. Genet. 56:113-122(2019)
Cited for: INVOLVEMENT IN DEE72; VARIANTS DEE72 GLN-130 AND THR-134;
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