Variant position: 550 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 VCMGIFIFNVVYYEPLVYNN TYVYPWWGEAMGWAFALSSML
Mouse VCMGIFIFNIVYYEPLVYNN TYVYPWWGEAMGWAFALSSML
Rat VCMGIFIFNVVYYKPLVYNN TYVYPWWGEAMGWAFALSSML
Bovine VCMGIFIFNVVYHEPLVYNN TYVYPWWGEAVGWAFALSSML
Rabbit VCMGIFIFNIVYYKPLVYNK TYVYPWWGEAMGWAFALSSML
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
542 – 560 Extracellular
548 – 548 N-linked (GlcNAc...) asparagine
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.
Nava C.; Lamari F.; Heron D.; Mignot C.; Rastetter A.; Keren B.; Cohen D.; Faudet A.; Bouteiller D.; Gilleron M.; Jacquette A.; Whalen S.; Afenjar A.; Perisse D.; Laurent C.; Dupuits C.; Gautier C.; Gerard M.; Huguet G.; Caillet S.; Leheup B.; Leboyer M.; Gillberg C.; Delorme R.; Bourgeron T.; Brice A.; Depienne C.;
Transl. Psychiatry 2:E179-E179(2012)
Cited for: VARIANT SER-550;
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.;
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;
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.