UniProtKB/SwissProt variant VAR

Variant information

Variant position:

333

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 Arginine (R) to Glutamine (Q) at position 333 (R333Q, p.Arg333Gln).

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 large size and basic (R) to medium size and polar (Q)

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 and GLUT1DS2.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs1553155986 [ dbSNP | Ensembl ]

Sequence information

Variant position:

333

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:

SGIVNTAFTVVSLFVVERAG R RTLHLIGLAGMAGCAILMTI

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                         SGIVNTAFTVVSLFVVERAGRRTLHLIGLAGMAGCAILMTI

Mouse                         SGIVNTAFTVVSLFVVERAGRRTLHLIGLAGMAGCAVLMTI

Rat                           SGIVNTAFTVVSLFVVERAGRRTLHLIGLAGMAGCAVLMTI

Pig                           SGIVNTAFTVVSLFVVERAGRRTLHLIGLAGMAGCAVLMTI

Bovine                        SGIVNTAFTVVSLFVVERAGRRTLHLIGLAGMAGCAVLMTI

Rabbit                        SGIVNTAFTVVSLFVVERAGRRTLHLIGLAGMAACAVLMTI

Sheep                         SGIVNTAFTVVSLFVVERAGRRTLHLIGLAGMAGCAVLMTI

Chicken                       SGVVNTAFTVVSLFVVERAGRRTLHLIGLAGMAGCAILMTI

Drosophila                    IGAIMVVMTLVSIPLMDRTGRRTLHLYGLGGMFIFSIFITI

Baker's yeast                 ---LYKAWSQIVCSLIPNMSNHQSNLKKFK-----EIMNAL

Fission yeast                 ---LFKAWSAIVYTLIPNTPTLESHLREFA-----KAAEAA

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
Topological domain	329 – 334	Cytoplasmic
Binding site	317 – 317
Mutagenesis	340 – 340	G -> C. Strongly decreases glucose transport.
Helix	333 – 356

Literature citations

GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
Schneider S.A.; Paisan-Ruiz C.; Garcia-Gorostiaga I.; Quinn N.P.; Weber Y.G.; Lerche H.; Hardy J.; Bhatia K.P.;
Mov. Disord. 24:1684-1688(2009)
Cited for: VARIANTS GLUT1DS2 TRP-92 AND GLN-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.Arg333Gln