Variant position: 310 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 VFYYSTSIFEKAGV--QQPVYA TIGSGIVNTAFTVVSLFVVER
Mouse VFYYSTSIFEKAGV--QQPVYA TIGSGIVNTAFTVVSLFVV
Rat VFYYSTSIFEKAGV--QQPVYA TIGSGIVNTAFTVVSLFVV
Pig VFYYSTSIFEKAGV--QQPVYA TIGSGIVNTAFTVVSLFVV
Bovine VFYYSTSIFEKAGV--QQPVYA TIGSGIVNTAFTVVSLFVV
Rabbit VFYYSTSIFEKAGV--QQPVYA TIGSGIVNTAFTVVSLFVV
Sheep VFYYSTSIFEKAGV--QQPVYA TIGSGIVNTAFTVVSLFVV
Chicken VFYYSTSIFEKSGV--EQPVYA TIGSGVVNTAFTVVSLFVV
Drosophila VFYYSTSLFMSSGLTEESAKFA TIGIGAIMVVMTLVSIPLM
Baker's yeast LIGFPTSIWDES---------- ------LYKAWSQIVCSLI
Fission yeast TTCLATSIWDET---------- ------LFKAWSAIVYTLI
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
307 – 328 Helical; Name=8
317 – 317 Monosaccharide
306 – 327
Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome.
Klepper J.; Wang D.; Fischbarg J.; Vera J.C.; Jarjour I.T.; O'Driscoll K.R.; De Vivo D.C.;
Neurochem. Res. 24:587-594(1999)
Cited for: VARIANT GLUT1DS1 ILE-310; FUNCTION; CATALYTIC ACTIVITY;
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.