Sequence information
Variant position: 130 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 492 The length of the canonical sequence.
Location on the sequence:
MGFSKLGKSFEMLILGRFII
G VYCGLTTGFVPMYVGEVSPT
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 MGFSKLGKSFEMLILGRFIIG VY-CGLTTGFVPMYVGEVSPT
Mouse MGFSKLGKSFEMLILGRFIIG VY-CGLTTGFVPMYVGEVSP
Rat MGFSKLGKSFEMLILGRFIIG VY-CGLTTGFVPMYVGEVSP
Pig MGFSKLGKSFEMLILGRFIIG VY-CGLTTGFVPMYVGEVSP
Bovine MGFSKLGKSFEMLILGRFIIG VY-CGLTTGFVPMYVGEVSP
Rabbit MGFSKLAKSFEMLILGRFIIG VY-CGLTTGFVPMYVGEVSP
Sheep MGFSKLGKSFEMLILGRFIIG VY-CGLTTGFVPMYVGEVSP
Chicken MGFSKMALSFEMLILGRFIIG LY-SGLTTGFVPMYVGEVSP
Drosophila MGFTKVSHSYEMLFLGRFIIG VN-CGLNTSLVPMYISEIAP
Baker's yeast GATIDVEHSH-LRFLGNMTLN LWDCGGQDVFMENYFTKQKD
Fission yeast GATIDIEHSH-VRFLGNLVLN LWDCGGQEAFMENYLSAQRD
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
1 – 492
Solute carrier family 2, facilitated glucose transporter member 1
Transmembrane
121 – 144
Helical; Name=4
Binding site
137 – 137
Helix
119 – 147
Literature citations
Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.
Wang D.; Pascual J.M.; Yang H.; Engelstad K.; Jhung S.; Sun R.P.; De Vivo D.C.;
Ann. Neurol. 57:111-118(2005)
Cited for: VARIANTS GLUT1DS1 SER-34; HIS-126; SER-130; CYS-153; LEU-169 DEL; MET-295 AND TRP-333; CHARACTERIZATION OF VARIANTS GLUT1 DEFICIENCY SER-34; HIS-126; SER-130; CYS-153; LEU-169 DEL; MET-295 AND TRP-333;
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Leen W.G.; Klepper J.; Verbeek M.M.; Leferink M.; Hofste T.; van Engelen B.G.; Wevers R.A.; Arthur T.; Bahi-Buisson N.; Ballhausen D.; Bekhof J.; van Bogaert P.; Carrilho I.; Chabrol B.; Champion M.P.; Coldwell J.; Clayton P.; Donner E.; Evangeliou A.; Ebinger F.; Farrell K.; Forsyth R.J.; de Goede C.G.; Gross S.; Grunewald S.; Holthausen H.; Jayawant S.; Lachlan K.; Laugel V.; Leppig K.; Lim M.J.; Mancini G.; Marina A.D.; Martorell L.; McMenamin J.; Meuwissen M.E.; Mundy H.; Nilsson N.O.; Panzer A.; Poll-The B.T.; Rauscher C.; Rouselle C.M.; Sandvig I.; Scheffner T.; Sheridan E.; Simpson N.; Sykora P.; Tomlinson R.; Trounce J.; Webb D.; Weschke B.; Scheffer H.; Willemsen M.A.;
Brain 133:655-670(2010)
Cited for: VARIANTS GLUT1DS1 TYR-34; VAL-96; SER-130; VAL-155; CYS-212; HIS-212; TRP-223; MET-295; GLN-329; GLN-333; ASP-382; ASP-405 AND LEU-485; VARIANTS GLUT1DS2 TRP-93 AND HIS-153; VARIANT LEU-303;
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.