Sequence information
Variant position: 382 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:
PWMSYLSIVAIFGFVAFFEV
G PGPIPWFIVAELFSQGPRPA
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 PWMSYLSIVAIFGFVAFFEVG PGPIPWFIVAELFSQGPRPA
Mouse PWMSYLSIVAIFGFVAFFEVG PGPIPWFIVAELFSQGPRPA
Rat PWMSYLSIVAIFGFVAFFEVG PGPIPWFIVAELFSQGPRPA
Pig PWMSYLSIVAIFGFVAFFEVG PGPIPWFIVAELFSQGPRPA
Bovine PWMSYLSIVAIFGFVAFFEVG PGPIPWFIVAELFSQGPRPA
Rabbit PWMSYLSIVAIFGFVAFFEVG PGPIPWFIVAELFSQGPRPA
Sheep PWMSYLSIVAIFGFVAFFEVG PGPIPWFIVAELFSQGPRPA
Chicken PWMSYLSIVAIFGFVAFFEIG PGPIPWFIVAELFSQGPRPA
Drosophila DWMSYLSVVATLGFVVFFAVG PGSIPWMITAELFSQGPRPS
Baker's yeast TFL----VICSSN-------- -GENSNENHDSSDNNNVLLD
Fission yeast TFL----VISSYS-------- ------------SESNPATD
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
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.