Variant position: 95 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 GGMIGSFSVGLFVNRFGRRN SMLMMNLLAFVSAVLMGFSKL
Mouse GGMIGSFSVGLFVNRFGRRN SMLMMNLLAFVAAVLMGFSKL
Rat GGMIGSFSVGLFVNRFGRRN SMLMMNLLAFVSAVLMGFSKL
Pig GGMIGSFSVGLFVNRFGRRN SMLMMNLLAFISAVLMGFSKL
Bovine GGMIGSFSVGLFVNRFGRRN SMLMMNLLAFVSAVLMGFSKL
Rabbit GGMIGSFSVGLFVNRFGRRN SMLMMNLLAFVSAVLMGFSKL
Sheep GGMIGSFSVGLFVNRFGRRN SMLMMNLLAFVSAVLMGFSKL
Chicken GGMIGSFSVGLFVNRFGRRN SMLMSNILAFLAAVLMGFSKM
Drosophila GGMLGGFSGGWMANRFGRKG GLLLNNVLGIAGACLMGFTKV
Baker's yeast --LMGRSGSGKSSMR----- SIIFSNYSAFDTRRLGATIDV
Fission yeast --LMGRSGSGKSSMR----- SIVFSNYVAKDTRRLGATIDI
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
91 – 112 Helical; Name=3
92 – 98
Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.
Mullen S.A.; Suls A.; De Jonghe P.; Berkovic S.F.; Scheffer I.E.;
Cited for: VARIANTS GLUT1DS2 ILE-95; PRO-223; SER-314 AND LEU-324; VARIANTS GLUT1DS1 ASP-91 AND HIS-126;
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