UniProtKB/SwissProt variant VAR

Variant information

Variant position:

130

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 Glycine (G) to Serine (S) at position 130 (G130S, p.Gly130Ser).

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:

Change from glycine (G) to small size and polar (S)

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

BLOSUM score:

0

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; 75% of wild-type glucose uptake activity.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs80359819 [ dbSNP | Ensembl ]

Sequence information

Variant position:

130

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:

MGFSKLGKSFEMLILGRFII G VYCGLTTGFVPMYVGEVSPT

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                         MGFSKLGKSFEMLILGRFIIGVY-CGLTTGFVPMYVGEVSPT

Mouse                         MGFSKLGKSFEMLILGRFIIGVY-CGLTTGFVPMYVGEVSP

Rat                           MGFSKLGKSFEMLILGRFIIGVY-CGLTTGFVPMYVGEVSP

Pig                           MGFSKLGKSFEMLILGRFIIGVY-CGLTTGFVPMYVGEVSP

Bovine                        MGFSKLGKSFEMLILGRFIIGVY-CGLTTGFVPMYVGEVSP

Rabbit                        MGFSKLAKSFEMLILGRFIIGVY-CGLTTGFVPMYVGEVSP

Sheep                         MGFSKLGKSFEMLILGRFIIGVY-CGLTTGFVPMYVGEVSP

Chicken                       MGFSKMALSFEMLILGRFIIGLY-SGLTTGFVPMYVGEVSP

Drosophila                    MGFTKVSHSYEMLFLGRFIIGVN-CGLNTSLVPMYISEIAP

Baker's yeast                 GATIDVEHSH-LRFLGNMTLNLWDCGGQDVFMENYFTKQKD

Fission yeast                 GATIDIEHSH-VRFLGNLVLNLWDCGGQEAFMENYLSAQRD

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	121 – 144	Helical; Name=4
Binding site	137 – 137	Cytochalasin B; inhibitor
Helix	119 – 147

Literature citations

Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects.
Wang D.; Pascual J.M.; Yang H.; Engelstad K.; Jhung S.; Sun R.P.; De Vivo D.C.;
Ann. Neurol. 57:111-118(2005)
Cited for: VARIANTS GLUT1DS1 SER-34; HIS-126; SER-130; CYS-153; LEU-169 DEL; MET-295 AND TRP-333; CHARACTERIZATION OF VARIANTS GLUT1 DEFICIENCY SER-34; HIS-126; SER-130; CYS-153; LEU-169 DEL; MET-295 AND TRP-333;

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.Gly130Ser