Variant position: 383 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 LGFMAAEQGVHISKVAESGP GLAFIAYPRAVTLMPVAPLWA
Mouse LGFMATEQGVHISKVAESGP GLAFIAYPRAVTLMPVAPLWA
Rat LGFMATEQGVHISKVAESGP GLAFIAYPRAVTLMPVAPLWA
Bovine LGFMATEQGVHISKVAESGP GLAFIAYPRAVTLMPVAPLWA
Rabbit LGFMATEQGVHISKVAESGP GLAFIAYPRAVTLMPVAPLWA
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
363 – 394 Extracellular
Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.
Comeaux M.S.; Wang J.; Wang G.; Kleppe S.; Zhang V.W.; Schmitt E.S.; Craigen W.J.; Renaud D.; Sun Q.; Wong L.J.;
Mol. Genet. Metab. 109:260-268(2013)
Cited for: VARIANTS CCDS1 HIS-80; CYS-383; ASP-448 AND ILE-539;
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.