Sequence information
Variant position: 385 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 750 The length of the canonical sequence.
Location on the sequence:
DKDVNERNTVKGFRKFNILG
T HTKVMNMEESTNGSLAAEFR
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 DKDVN----ERNTVKGFRKFNILGT HTKVMN-MEESTNGSLAAEFR
Mouse DKDVN----EKNTVKGFRKFNILGT HTKVMN-MEESTNGSL
Pig DKDVS----ERNTVKGFRKFNILGT HTKVMN-MEESTNGSL
Caenorhabditis elegans EDEAKQLSVDYDAHKEIRNNKTVGT ISNDFEKLTMNERGHL
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
2 – 750
Signal transducer and activator of transcription 1-alpha/beta
Modified residue
366 – 366
N6-methyllysine
Mutagenesis
366 – 366
K -> A. No effect on IFN-alpha-induced STAT1 phosphorylation and nuclear translocation.
Literature citations
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.
Soltesz B.; Toth B.; Shabashova N.; Bondarenko A.; Okada S.; Cypowyj S.; Abhyankar A.; Csorba G.; Tasko S.; Sarkadi A.K.; Mehes L.; Rozsival P.; Neumann D.; Chernyshova L.; Tulassay Z.; Puel A.; Casanova J.L.; Sediva A.; Litzman J.; Marodi L.;
J. Med. Genet. 50:567-578(2013)
Cited for: VARIANTS IMD31C GLY-165; LYS-179; GLN-274; TRP-274; ARG-285 AND MET-385; CHARACTERIZATION OF VARIANTS IMD31C LYS-179; GLN-274; TRP-274; ARG-285 AND MET-385; CHARACTERIZATION OF VARIANT IMD31B CYS-701;
Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.
Yamazaki Y.; Yamada M.; Kawai T.; Morio T.; Onodera M.; Ueki M.; Watanabe N.; Takada H.; Takezaki S.; Chida N.; Kobayashi I.; Ariga T.;
J. Immunol. 193:4880-4887(2014)
Cited for: VARIANTS IMD31C GLU-278 AND ASP-384; CHARACTERIZATION OF VARIANTS IMD31C GLU-278; ASP-384 AND MET-385;
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.