UniProtKB/Swiss-Prot P48029: Variant p.Cys337Trp

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

Variant position:  337
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 Cysteine (C) to Tryptophan (W) at position 337 (C337W, p.Cys337Trp).
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 medium size and polar (C) to large size and aromatic (W)
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

Variant description:  In CCDS1.
Any additional useful information about the variant.



Sequence information

Variant position:  337
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:   YAIGLGALTALGSYNRFNNN  C YKDAIILALINSGTSFFAGF
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                         YAIGLGALTALGSYNRFNNNCYKDAIILALINSGTSFFAGF

Mouse                         YAIGLGALTALGSYNRFNNNCYKDAIILALINSGTSFFAGF

Rat                           YAIGLGALTALGSYNRFNNNCYKDAIILALINSGTSFFAGF

Bovine                        YAIGLGALTALGSYNRFNNNCYKDAIILALINSGTSFFAGF

Rabbit                        YAIGLGALTALGSYNRFNNNCYKDAIILALINSGTSFFAGF

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 326 – 341 Cytoplasmic
Alternative sequence 1 – 365 Missing. In isoform 3.


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.