Sequence information
Variant position: 270 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:
VWKGVKSTGKIVYFTATFPY
V VLVVLLVRGVLLPGALDGII
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 VWKGVKSTGKIVYFTATFPYV VLVVLLVRGVLLPGALDGII
Mouse VWKGVKSTGKIVYFTATFPYV VLVVLLVRGVLLPGALDGII
Rat VWKGVKSTGKIVYFTATFPYV VLVVLLVRGVLLPGALDGII
Bovine VWKGVKSTGKIVYFTATFPYV VLVVLLVRGVLLPGALDGII
Rabbit VWKGVKSTGKIVYFTATFPYV VLVVLLVRGVLLPGALDGII
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 – 635
Sodium- and chloride-dependent creatine transporter 1
Transmembrane
270 – 290
Helical
Alternative sequence
1 – 365
Missing. In isoform 3.
Literature citations
Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.
DesRoches C.L.; Patel J.; Wang P.; Minassian B.; Salomons G.S.; Marshall C.R.; Mercimek-Mahmutoglu S.;
Gene 565:187-191(2015)
Cited for: VARIANT CCDS1 LEU-552; CHARACTERIZATION OF VARIANT CCDS1 LEU-552; VARIANTS HIS-186; MET-270; GLN-294; LEU-314; THR-318; SER-550; LEU-564; THR-611 AND LYS-624; CHARACTERIZATION OF VARIANTS HIS-186; MET-270; GLN-294; LEU-314; THR-318; LEU-564; THR-611 AND LYS-624;
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.