Variant position: 491 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:
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 QLFDYYSASGTTLLWQAFWE CVVVAWVYGADRFMDDIACMI
Mouse QLFDYYSASGTTLLWQAFWE CVVVAWVYGADRFMDDIACMI
Rat QLFDYYSASGTTLLWQAFWE CVVVAWVYGADRFMDDIACMI
Bovine QLFDYYSASGTTLLWQAFWE CVVVAWVYGADRFMDDVACMI
Rabbit QLFDYYSASGTTLLWQAFWE CVAVAWVYGADRFMDDIACMI
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
1 – 635 Sodium- and chloride-dependent creatine transporter 1
480 – 500 Helical
498 – 498 Y -> YGRSWLRAGLGDGGGEGRSPAWPSRLTSPQ. In isoform 2.
High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.
Lion-Francois L.; Cheillan D.; Pitelet G.; Acquaviva-Bourdain C.; Bussy G.; Cotton F.; Guibaud L.; Gerard D.; Rivier C.; Vianey-Saban C.; Jakobs C.; Salomons G.S.; des Portes V.;
Cited for: VARIANTS CCDS1 VAL-132 AND TRP-491;
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.