UniProtKB/SwissProt variant VAR

Variant information

Variant position:

96

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

LP/P [Disclaimer]

The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Methionine (M) to Valine (V) at position 96 (M96V, p.Met96Val).

Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:

Similar physico-chemical property. Both residues are medium size and hydrophobic.

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

1

The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page

Variant description:

In GLUT1DS1.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs753161833 [ dbSNP | Ensembl ]

Sequence information

Variant position:

96

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:

GMIGSFSVGLFVNRFGRRNS M LMMNLLAFVSAVLMGFSKLG

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                         GMIGSFSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGFSKLG

Mouse                         GMIGSFSVGLFVNRFGRRNSMLMMNLLAFVAAVLMGFSKLG

Rat                           GMIGSFSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGFSKLG

Pig                           GMIGSFSVGLFVNRFGRRNSMLMMNLLAFISAVLMGFSKLG

Bovine                        GMIGSFSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGFSKLG

Rabbit                        GMIGSFSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGFSKLA

Sheep                         GMIGSFSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGFSKLG

Chicken                       GMIGSFSVGLFVNRFGRRNSMLMSNILAFLAAVLMGFSKMA

Drosophila                    GMLGGFSGGWMANRFGRKGGLLLNNVLGIAGACLMGFTKVS

Baker's yeast                 -LMGRSGSGKSSMR-----SIIFSNYSAFDTRRLGATIDVE

Fission yeast                 -LMGRSGSGKSSMR-----SIVFSNYVAKDTRRLGATIDIE

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
Transmembrane	91 – 112	Helical; Name=3
Helix	92 – 111

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P11166: Variant p.Met96Val