Variant position: 232 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 RFLLINRNEENRAKSVLKKL RGTADVTHDLQEMKEESRQMM
Mouse RFLLINRNEENRAKSVLKKL RGTADVTRDLQEMKEEGRQMM
Rat RFLLINRNEENRAKSVLKKL RGTADVTRDLQEMKEEGRQMM
Pig RFLLINRNEENRAKSVLKKL RGTADVTRDLQEMKEESRQMM
Bovine RFLLINRNEENRAKSVLKKL RGTADVTRDLQEMKEESRQMM
Rabbit RFLLINRNEENRAKSVLKKL RGNADVTRDLQEMKEESRQMM
Sheep RFLLINRNEENRAKSVLKKL RGTADVTRDLQEMKEESRQMM
Chicken RFLLINRNEENKAKSVLKKL RGTTDVSSDLQEMKEESRQMM
Drosophila RYLLITKQWEEEARKALRRL RASGSVEEDIEEMRAEERAQQ
Baker's yeast IFVLLHK------------- ---------MDLVQLDKREEL
Fission yeast VFCLIHK------------- ---------MDLVQEDLRDLV
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
207 – 271 Cytoplasmic
226 – 226 Phosphoserine; by PKC/PRKCB
226 – 226 S -> A. Abolishes phosphorylation by PKA, leading to impaired response to TPA.
221 – 232
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.
Striano P.; Weber Y.G.; Toliat M.R.; Schubert J.; Leu C.; Chaimana R.; Baulac S.; Guerrero R.; LeGuern E.; Lehesjoki A.E.; Polvi A.; Robbiano A.; Serratosa J.M.; Guerrini R.; Nurnberg P.; Sander T.; Zara F.; Lerche H.; Marini C.;
Cited for: VARIANT EIG12 CYS-232; CHARACTERIZATION OF VARIANT EIG12 CYS-232;
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.