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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P48029: Variant p.Phe314Leu

Sodium- and chloride-dependent creatine transporter 1
Gene: SLC6A8
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Variant information Variant position: help 314
Type of variant: help LB/B
Residue change: help From Phenylalanine (F) to Leucine (L) at position 314 (F314L, p.Phe314Leu).
Physico-chemical properties: help Change from large size and aromatic (F) to medium size and hydrophobic (L)
BLOSUM score: help 0
Variant description: help 65.0% of wild type creatine transporter activity.
Other resources: help


Sequence information Variant position: help 314
Protein sequence length: help 635
Location on the sequence: help KPDWSKLGSPQVWIDAGTQI F FSYAIGLGALTALGSYNRFN
Residue conservation: help 
Human                         KPDWSKLGSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFN

Mouse                         KPDWSKLGSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFN

Rat                           KPDWSKLGSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFN

Bovine                        KPDWSKLASPQVWIDAGTQIFFSYAIGLGALTALGSYNRFN

Rabbit                        KPDWSKLRSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFN
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 635 Sodium- and chloride-dependent creatine transporter 1
Transmembrane 305 – 325 Helical
Alternative sequence 1 – 365 Missing. In isoform 3.



Literature citations
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.;
Gene 565:187-191(2015)
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; 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.