UniProtKB/Swiss-Prot P48029: Variant p.Phe314Leu

Sodium- and chloride-dependent creatine transporter 1
Gene: SLC6A8
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Variant information Variant position:

314 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Phenylalanine (F) to Leucine (L) at position 314 (F314L, p.Phe314Leu). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from large size and aromatic (F) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Variant description:

65.0% of wild type creatine transporter activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs144678921 [ dbSNP | Ensembl ]

Sequence information Variant position:

314 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:

KPDWSKLGSPQVWIDAGTQI F FSYAIGLGALTALGSYNRFN 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                         KPDWSKLGSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFN

Mouse                         KPDWSKLGSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFN

Rat                           KPDWSKLGSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFN

Bovine                        KPDWSKLASPQVWIDAGTQIFFSYAIGLGALTALGSYNRFN

Rabbit                        KPDWSKLRSPQVWIDAGTQIFFSYAIGLGALTALGSYNRFN

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
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.