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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y4Z2: Variant p.Arg107Ser

Neurogenin-3
Gene: NEUROG3
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Variant information Variant position: help 107 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Serine (S) at position 107 (R107S, p.Arg107Ser). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In DIAR4; likely pathogenic; loss of positive regulation of DNA-templated transcription shown by a NEUROD1 luciferase reporter assay. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 107 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 214 The length of the canonical sequence.
Location on the sequence: help KANDRERNRMHNLNSALDAL R GVLPTFPDDAKLTKIETLRF 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         KANDRERNRMHNLNSALDALRGVLPTFPDDAKLTKIETLRF

Mouse                         KANDRERNRMHNLNSALDALRGVLPTFPDDAKLTKIETLRF
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 214 Neurogenin-3
Domain 83 – 135 bHLH



Literature citations
Mutant neurogenin-3 in congenital malabsorptive diarrhea.
Wang J.; Cortina G.; Wu S.V.; Tran R.; Cho J.-H.; Tsai M.-J.; Bailey T.J.; Jamrich M.; Ament M.E.; Treem W.R.; Hill I.D.; Vargas J.H.; Gershman G.; Farmer D.G.; Reyen L.; Martin M.G.;
N. Engl. J. Med. 355:270-280(2006)
Cited for: VARIANTS DIAR4 LEU-93 AND SER-107; CHARACTERIZATION OF VARIANTS DIAR4 LEU-93 AND SER-107; INVOLVEMENT IN DIAR4; FUNCTION;
Neurogenin 3 is important but not essential for pancreatic islet development in humans.
Rubio-Cabezas O.; Codner E.; Flanagan S.E.; Gomez J.L.; Ellard S.; Hattersley A.T.;
Diabetologia 57:2421-2424(2014)
Cited for: VARIANTS DIAR4 SER-107 AND PRO-135; INVOLVEMENT IN DIAR4;
A New Case of Congenital Malabsorptive Diarrhea and Diabetes Secondary to Mutant Neurogenin-3.
German-Diaz M.; Rodriguez-Gil Y.; Cruz-Rojo J.; Charbit-Henrion F.; Cerf-Bensussan N.; Manzanares-Lopez Manzanares J.; Moreno-Villares J.M.;
Pediatrics 140:0-0(2017)
Cited for: VARIANT DIAR4 SER-107; INVOLVEMENT IN DIAR4;
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.