Sequence information
Variant position: 468 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:
TYFKVPETKGRTFDEIASGF
R QGGASQSDKTPEELFHPLGA
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 TYFKVPETKGRTFDEIASGFR Q--------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------GGASQSDKTPEE--------------------------------------------------------------------LFH-------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------PLGA
Mouse TYFKVPETKGRTFDEIASGFR Q-------------------
Rat TYFKVPETKGRTFDEIASGFR Q-------------------
Pig TYFKVPETKGRTFDEIASGFR Q-------------------
Bovine TYFKVPETKGRTFDEIASGFR Q-------------------
Rabbit TYFKVPETKGRTFDEIASGFR Q-------------------
Sheep TYFKVPETKGRTFDEIASGFR Q-------------------
Chicken TYFKVPETKGRTFDEIAYRFR Q-------------------
Drosophila TYKKVPETKNKTFEEILALFR HNNGRSMLNCTNSLEPQSMN
Baker's yeast KDMNIPQEL--VLENIKKAKE F-------------------
Fission yeast ADPEIESAV--TLMNIQSARR F-------------------
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
Topological domain
451 – 492
Cytoplasmic
Region
468 – 492
Disordered region
Modified residue
465 – 465
Phosphoserine
Modified residue
478 – 478
Phosphothreonine
Literature citations
Autosomal recessive inheritance of GLUT1 deficiency syndrome.
Klepper J.; Scheffer H.; Elsaid M.F.; Kamsteeg E.J.; Leferink M.; Ben-Omran T.;
Neuropediatrics 40:207-210(2009)
Cited for: VARIANT GLUT1DS1 TRP-468;
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.