Variant position: 381 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 SILGFMAAEQGVHISKVAES GPGLAFIAYPRAVTLMPVAPL
Mouse SILGFMATEQGVHISKVAES GPGLAFIAYPRAVTLMPVAPL
Rat SILGFMATEQGVHISKVAES GPGLAFIAYPRAVTLMPVAPL
Bovine SILGFMATEQGVHISKVAES GPGLAFIAYPRAVTLMPVAPL
Rabbit SILGFMATEQGVHISKVAES GPGLAFIAYPRAVTLMPVAPL
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
X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.
Hahn K.A.; Salomons G.S.; Tackels-Horne D.; Wood T.C.; Taylor H.A.; Schroer R.J.; Lubs H.A.; Jakobs C.; Olson R.L.; Holden K.R.; Stevenson R.E.; Schwartz C.E.;
Am. J. Hum. Genet. 70:1349-1356(2002)
Cited for: VARIANT CCDS1 ARG-381;
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