Variant position: 390 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 QGVHISKVAESGPGLAFIAY PRAVTLMPVAPLWAALFFFML
Mouse QGVHISKVAESGPGLAFIAY PRAVTLMPVAPLWAALFFFML
Rat QGVHISKVAESGPGLAFIAY PRAVTLMPVAPLWAALFFFML
Bovine QGVHISKVAESGPGLAFIAY PRAVTLMPVAPLWAALFFFML
Rabbit QGVHISKVAESGPGLAFIAY PRAVTLMPVAPLWAALFFFML
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
High prevalence of SLC6A8 deficiency in X-linked mental retardation.
Rosenberg E.H.; Almeida L.S.; Kleefstra T.; deGrauw R.S.; Yntema H.G.; Bahi N.; Moraine C.; Ropers H.-H.; Fryns J.-P.; deGrauw T.J.; Jakobs C.; Salomons G.S.;
Am. J. Hum. Genet. 75:97-105(2004)
Cited for: VARIANTS CCDS1 ARG-87; TRP-337; LEU-390 AND LEU-554; VARIANT VAL-560;
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;
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.