Sequence information
Variant position: 286 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:
VAESLQQVRQQLKKLEELEQ
K YTYEHDPITKNKQVLWDRTF
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 VAESLQQVRQQLKKLEELEQK YTYEHDPITKNK----QVLWDRTF
Mouse VAETLQQIRQQLKKLEELEQK FTYEPDPITKNK----QVLS
Pig VAESLQQVRQQLKKLEELEQK YTYEHDPITKNK----QALW
Caenorhabditis elegans LADQNWQLNMFSCWMLDLLRR APQLNDGLAQATIGKLTAIT
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
Coiled coil
136 – 317
Modified residue
296 – 296
N6-methyllysine
Mutagenesis
296 – 296
K -> A. No effect on IFN-alpha-induced STAT1 phosphorylation and nuclear translocation.
Helix
257 – 286
Literature citations
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.
Liu L.; Okada S.; Kong X.F.; Kreins A.Y.; Cypowyj S.; Abhyankar A.; Toubiana J.; Itan Y.; Audry M.; Nitschke P.; Masson C.; Toth B.; Flatot J.; Migaud M.; Chrabieh M.; Kochetkov T.; Bolze A.; Borghesi A.; Toulon A.; Hiller J.; Eyerich S.; Eyerich K.; Gulacsy V.; Chernyshova L.; Chernyshov V.; Bondarenko A.; Maria Cortes Grimaldo R.; Blancas-Galicia L.; Madrigal Beas I.M.; Roesler J.; Magdorf K.; Engelhard D.; Thumerelle C.; Burgel P.R.; Hoernes M.; Drexel B.; Seger R.; Kusuma T.; Jansson A.F.; Sawalle-Belohradsky J.; Belohradsky B.; Jouanguy E.; Bustamante J.; Bue M.; Karin N.; Wildbaum G.; Bodemer C.; Lortholary O.; Fischer A.; Blanche S.; Al-Muhsen S.; Reichenbach J.; Kobayashi M.; Rosales F.E.; Lozano C.T.; Kilic S.S.; Oleastro M.; Etzioni A.; Traidl-Hoffmann C.; Renner E.D.; Abel L.; Picard C.; Marodi L.; Boisson-Dupuis S.; Puel A.; Casanova J.L.;
J. Exp. Med. 208:1635-1648(2011)
Cited for: VARIANTS IMD31C GLY-165; HIS-165; ASN-170; ARG-174; ILE-202; VAL-202; VAL-267; PRO-271; GLN-274; TRP-274; ILE-286 AND ALA-288; CHARACTERIZATION OF VARIANTS IMD31C GLY-165 AND GLN-274;
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.