UniProtKB/Swiss-Prot Q96A29: Variant p.Arg147Cys

GDP-fucose transporter 1
Gene: SLC35C1
Chromosomal location: 11p11.11
Variant information

Variant position:  147
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Arginine (R) to Cysteine (C) at position 147 (R147C, p.Arg147Cys).
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 (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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

Involvement in disease:  Congenital disorder of glycosylation 2C (CDG2C) [MIM:266265]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The clinical features of CDG2C include mental retardation, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes. Biochemically, CDG2C is characterized by a lack of fucosylated glycoconjugates, including selectin ligands. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In CDG2C.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  147
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  364
The length of the canonical sequence.

Location on the sequence:   MITFNNLCLKYVGVAFYNVG  R SLTTVFNVLLSYLLLKQTTS
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                         MITFNNLCLKYVGVAFYNVGRSLTTVFNVLLSYLLLKQTTS

Mouse                         MITFNNLCLKYVGVPFYNVGRSLTTVFNVLLSYLLLKQTTS

Bovine                        MITFNNLCLKYVGVAFYNVGRSLTTVFNVLLSYLLLKQTTS

Caenorhabditis elegans        MISFNNLCLKYVGVSFYYVGRSLTTVFNVVCTYLILGQKTS

Drosophila                    MIGANNLSLSYVTVAFYYIGRSLTTVFSVVLTYVILRQRTS

Slime mold                    MVIFNNLCLEYVEVSFYQVARSLTICFSLILTYIVLKSKTS

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.

TypePositionsDescription
Chain 1 – 364 GDP-fucose transporter 1
Transmembrane 140 – 162 Helical;


Literature citations

The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter.
Luehn K.; Wild M.K.; Eckhardt M.; Gerardy-Schahn R.; Vestweber D.;
Nat. Genet. 28:69-72(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); CHARACTERIZATION; VARIANT CDG2C CYS-147;

Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency.
Luebke T.; Marquardt T.; Etzioni A.; Hartmann E.; von Figura K.; Koerner C.;
Nat. Genet. 28:73-76(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS CDG2C CYS-147 AND ARG-308;

Disclaimer: 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.