Sequence information
Variant position: 134 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:
ARLERSKLRRQKANARERNR
M HDLNAALDNLRKVVPCYSKT
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 ARLERSKLRRQKANARERNRM HDLNAALDNLRKVVPCYSKT
Mouse ARLERSKLRRQKANARERNRM HDLNAALDNLRKVVPCYSKT
Rat ARLERSKLRRQKANARERNRM HDLNAALDNLRKVVPCYSKT
Zebrafish ARLERSKVRRQKANARERTRM HDLNSALDNLLKVVPCYSKT
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 – 382
Neurogenic differentiation factor 2
Domain
121 – 173
bHLH
Literature citations
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;
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.