Variant position: 391 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 GVHISKVAESGPGLAFIAYP RAVTLMPVAPLWAALFFFMLL
Mouse GVHISKVAESGPGLAFIAYP RAVTLMPVAPLWAALFFFMLL
Rat GVHISKVAESGPGLAFIAYP RAVTLMPVAPLWAALFFFMLL
Bovine GVHISKVAESGPGLAFIAYP RAVTLMPVAPLWAALFFFMLL
Rabbit GVHISKVAESGPGLAFIAYP RAVTLMPVAPLWAALFFFMLL
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
Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.
Rosenberg E.H.; Martinez Munoz C.; Betsalel O.T.; van Dooren S.J.; Fernandez M.; Jakobs C.; deGrauw T.J.; Kleefstra T.; Schwartz C.E.; Salomons G.S.;
Hum. Mutat. 28:890-896(2007)
Cited for: VARIANTS CCDS1 ARG-87; PHE-107 DEL; ASN-336 DEL; TRP-337; ILE-347 DEL; LEU-390; TRP-391 AND LEU-554; VARIANTS ARG-4; ARG-26; VAL-560 AND ILE-629; CHARACTERIZATION OF VARIANTS CCDS1 ARG-87; PHE-107 DEL; ASN-336 DEL; TRP-337; ILE-347 DEL; LEU-390 AND TRP-391; CHARACTERIZATION OF VARIANTS ARG-4; ARG-26; VAL-560 AND ILE-629;
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