Variant position: 333 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:
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 SGIVNTAFTVVSLFVVERAG RRTLHLIGLAGMAGCAILMTI
Mouse SGIVNTAFTVVSLFVVERAG RRTLHLIGLAGMAGCAVLMTI
Rat SGIVNTAFTVVSLFVVERAG RRTLHLIGLAGMAGCAVLMTI
Pig SGIVNTAFTVVSLFVVERAG RRTLHLIGLAGMAGCAVLMTI
Bovine SGIVNTAFTVVSLFVVERAG RRTLHLIGLAGMAGCAVLMTI
Rabbit SGIVNTAFTVVSLFVVERAG RRTLHLIGLAGMAACAVLMTI
Sheep SGIVNTAFTVVSLFVVERAG RRTLHLIGLAGMAGCAVLMTI
Chicken SGVVNTAFTVVSLFVVERAG RRTLHLIGLAGMAGCAILMTI
Drosophila IGAIMVVMTLVSIPLMDRTG RRTLHLYGLGGMFIFSIFITI
Baker's yeast ---LYKAWSQIVCSLIPNMS NHQSNLKKFKEIMNALEIILF
Fission yeast ---LFKAWSAIVYTLIPNTP TLESHLREFAKAAEAAEVILF
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
1 – 492 Solute carrier family 2, facilitated glucose transporter member 1
329 – 334 Cytoplasmic
317 – 317 Monosaccharide
340 – 340 G -> C. Strongly decreases glucose transport.
333 – 356
Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome.
Wang D.; Kranz-Eble P.; De Vivo D.C.;
Hum. Mutat. 16:224-231(2000)
Cited for: VARIANTS GLUT1DS1 PHE-66; LEU-126; LYS-146; GLU-256 AND TRP-333;
Imaging the metabolic footprint of Glut1 deficiency on the brain.
Pascual J.M.; van Heertum R.L.; Wang D.; Engelstad K.; De Vivo D.C.;
Ann. Neurol. 52:458-464(2002)
Cited for: VARIANTS GLUT1DS1 CYS-126; HIS-126; LYS-146; CYS-153 AND TRP-333;
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;
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.