Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P48029: Variant p.Arg391Trp

Sodium- and chloride-dependent creatine transporter 1
Gene: SLC6A8
Feedback?
Variant information Variant position: help 391
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Tryptophan (W) at position 391 (R391W, p.Arg391Trp).
Physico-chemical properties: help Change from large size and basic (R) to large size and aromatic (W)
BLOSUM score: help -3
Variant description: help In CCDS1; decreased creatine transporter activity.
Other resources: help


Sequence information Variant position: help 391
Protein sequence length: help 635
Location on the sequence: help GVHISKVAESGPGLAFIAYP R AVTLMPVAPLWAALFFFMLL
Residue conservation: help 
Human                         GVHISKVAESGPGLAFIAYPRAVTLMPVAPLWAALFFFMLL

Mouse                         GVHISKVAESGPGLAFIAYPRAVTLMPVAPLWAALFFFMLL

Rat                           GVHISKVAESGPGLAFIAYPRAVTLMPVAPLWAALFFFMLL

Bovine                        GVHISKVAESGPGLAFIAYPRAVTLMPVAPLWAALFFFMLL

Rabbit                        GVHISKVAESGPGLAFIAYPRAVTLMPVAPLWAALFFFMLL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 635 Sodium- and chloride-dependent creatine transporter 1
Topological domain 363 – 394 Extracellular



Literature citations
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; FUNCTION; TRANSPORTER ACTIVITY;
Disclaimer: 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.