Variant position: 103 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 356 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 RRGPKKKKMTKARLERFKLR RMKANARERNRMHGLNAALDN
Mouse RRGPKKKKMTKARLERFKLR RMKANARERNRMHGLNAALDN
Rat RRGPKKKKMTKARLERFKLR RMKANARERNRMHGLNAALDN
Chicken RRGPKKKKMTKARLERFKLR RMKANARERNRMHGLNAALDN
Xenopus laevis RRGPKKKKMTKARVERFKVR RMKANARERNRMHGLNDALDS
Zebrafish RRGPKKKKMTKARMQRFKMR RMKANARERNRMHGLNDALES
Caenorhabditis elegans MRPTDTSNFAPAEISKRKVR RVKANGRERARMHGLNNALDM
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 – 356 Neurogenic differentiation factor 1
101 – 153 bHLH
A family with the Arg103Pro mutation in the NEUROD1 gene detected by next-generation sequencing - Clinical characteristics of mutation carriers.
Szopa M.; Ludwig-Galezowska A.H.; Radkowski P.; Skupien J.; Machlowska J.; Klupa T.; Wolkow P.; Borowiec M.; Mlynarski W.; Malecki M.T.;
Eur. J. Med. Genet. 59:75-79(2016)
Cited for: VARIANT MODY6 PRO-103;
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.