UniProtKB/Swiss-Prot P48029: Variant p.Gly87Arg

Sodium- and chloride-dependent creatine transporter 1
Gene: SLC6A8
Chromosomal location: Xq28
Variant information

Variant position:  87
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 Glycine (G) to Arginine (R) at position 87 (G87R, p.Gly87Arg).
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 large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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:  Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]: An X-linked disorder of creatine transport characterized by mental retardation, severe speech delay, behavioral abnormalities, and seizures. Carrier females may show mild neuropsychologic impairment. 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 CCDS1.
Any additional useful information about the variant.



Sequence information

Variant position:  87
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  635
The length of the canonical sequence.

Location on the sequence:   GFAVGLGNVWRFPYLCYKNG  G GVFLIPYVLIALVGGIPIFF
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                         GFAVGLGNVWRFPYLCYKNGGGVFLIPYVLIALVGGIPIFF

Mouse                         GFAVGLGNVWRFPYLCYKNGGGVFLIPYVLIALVGGIPIFF

Rat                           GFAVGLGNVWRFPYLCYKNGGGVFLIPYVLIALVGGIPIFF

Bovine                        GFAVGLGNVWRFPYLCYKNGGGVFLIPYILIALIGGIPIFF

Rabbit                        GFAVGLGNVWRFPYLCYKNGGGVFLIPYVLIALVGGIPIFF

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 – 635 Sodium- and chloride-dependent creatine transporter 1
Topological domain 82 – 87 Extracellular
Alternative sequence 1 – 365 Missing. In isoform 3.
Alternative sequence 1 – 259 MAKKSAENGIYSVSGDEKKGPLIAPGPDGAPAKGDGPVGLGTPGGRLAVPPRETWTRQMDFIMSCVGFAVGLGNVWRFPYLCYKNGGGVFLIPYVLIALVGGIPIFFLEISLGQFMKAGSINVWNICPLFKGLGYASMVIVFYCNTYYIMVLAWGFYYLVKSFTTTLPWATCGHTWNTPDCVEIFRHEDCANASLANLTCDQLADRRSPVIEFWENKVLRLSGGLEVPGALNWEVTLCLLACWVLVYFCVWKGVKSTGK -> MLPTLQIQGPAAFAPGDRGPGRHCPFPVPITPTGALLPVSDSCDSLVDLVWPSVTYLALGTQSRVWPHPLGAPGQAGESPEQRRQCLELWDMASSLGDKVPRAACGKRGQTVWQLHLACLCLAQFHSPPAQPPPLSRRGGGPDPDPISRSLPGPPTPALPTHSYSSHSPRAPRLLSPLRRAPRGSPAPHRHASLQTNEAPRELPHCTWPGLPGRSLAPSFLWREPWLGGQWGPLNIPARKGDRRRWEWGCEGGGATASAEQPGPQ. In isoform 2.
Alternative sequence 1 – 115 Missing. In isoform 4.


Literature citations

High prevalence of SLC6A8 deficiency in X-linked mental retardation.
Rosenberg E.H.; Almeida L.S.; Kleefstra T.; deGrauw R.S.; Yntema H.G.; Bahi N.; Moraine C.; Ropers H.-H.; Fryns J.-P.; deGrauw T.J.; Jakobs C.; Salomons G.S.;
Am. J. Hum. Genet. 75:97-105(2004)
Cited for: VARIANTS CCDS1 ARG-87; TRP-337; LEU-390 AND LEU-554; VARIANT VAL-560;

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.