Sequence information
Variant position: 271 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 494 The length of the canonical sequence.
Location on the sequence:
VATAIGMDQRIGNKFLKASV
G FGGSCFQKDVLNLVYLCEAL
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 VATAIGMDQRIGNKFLKASVG FGGSCFQKDVLNLVYLCEAL
Mouse VATAIGMDQRIGNKFLKASVG FGGSCFQKDVLNLVYLCEAL
Rat VATAIGMDQRIGNKFLKASVG FGGGCFQKDVLNLVYLCEAL
Bovine VATAIGMDQRIGNKFLKASVG FGGSCFQKDVLNLVYLCEAL
Chicken VARAIGTDQRIGNKFLKASVG FGGSCFQKDVLNLVYLCEAL
Caenorhabditis elegans VAHAVGYDTRIGSKFLQASVG FGGSCFQKDVLSLVYLCESL
Drosophila VARAVGLDSRIGSKFLQASVG FGGSCFQKDILNLIYICENL
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.
Literature citations
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Hengel H.; Bosso-Lefevre C.; Grady G.; Szenker-Ravi E.; Li H.; Pierce S.; Lebigot E.; Tan T.T.; Eio M.Y.; Narayanan G.; Utami K.H.; Yau M.; Handal N.; Deigendesch W.; Keimer R.; Marzouqa H.M.; Gunay-Aygun M.; Muriello M.J.; Verhelst H.; Weckhuysen S.; Mahida S.; Naidu S.; Thomas T.G.; Lim J.Y.; Tan E.S.; Haye D.; Willemsen M.A.A.P.; Oegema R.; Mitchell W.G.; Pierson T.M.; Andrews M.V.; Willing M.C.; Rodan L.H.; Barakat T.S.; van Slegtenhorst M.; Gavrilova R.H.; Martinelli D.; Gilboa T.; Tamim A.M.; Hashem M.O.; Al-Sayed M.D.; Abdulrahim M.M.; Al-Owain M.; Awaji A.; Mahmoud A.A.H.; Faqeih E.A.; Asmari A.A.; Algain S.M.; Jad L.A.; Aldhalaan H.M.; Helbig I.; Koolen D.A.; Riess A.; Kraegeloh-Mann I.; Bauer P.; Gulsuner S.; Stamberger H.; Ng A.Y.J.; Tang S.; Tohari S.; Keren B.; Schultz-Rogers L.E.; Klee E.W.; Barresi S.; Tartaglia M.; Mor-Shaked H.; Maddirevula S.; Begtrup A.; Telegrafi A.; Pfundt R.; Schuele R.; Ciruna B.; Bonnard C.; Pouladi M.A.; Stewart J.C.; Claridge-Chang A.; Lefeber D.J.; Alkuraya F.S.; Mathuru A.S.; Venkatesh B.; Barycki J.J.; Simpson M.A.; Jamuar S.S.; Schoels L.; Reversade B.;
Nat. Commun. 11:595-595(2020)
Cited for: VARIANTS DEE84 CYS-14; THR-24; THR-42; VAL-44; 65-ARG--VAL-494 DEL; ALA-72; THR-82; THR-116; 155-GLN--VAL-494 DEL; ALA-175; ASP-217; THR-255; ARG-271; ILE-303; VAL-306; GLN-317; 356-TYR--VAL-494 DEL; CYS-367; TRP-393; SER-410; TRP-442; HIS-443 AND ARG-449; CHARACTERIZATION OF VARIANTS DEE84 VAL-44 AND THR-82; INVOLVEMENT IN DEE84; FUNCTION; CATALYTIC ACTIVITY; SUBUNIT;
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.