UniProtKB/Swiss-Prot O76082: Variant p.Ser467Cys

Solute carrier family 22 member 5
Gene: SLC22A5
Chromosomal location: 5q31
Variant information

Variant position:  467
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Serine (S) to Cysteine (C) at position 467 (S467C, p.Ser467Cys).
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 small size and polar (S) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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:  In CDSP; reduces L-carnitine uptake.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  467
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  557
The length of the canonical sequence.

Location on the sequence:   YVYTAELYPTVVRNMGVGVS  S TASRLGSILSPYFVYLGAYD
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                         YVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLGAYD

Mouse                         YVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLGAYD

Rat                           YVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLGAYD

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.

TypePositionsDescription
Chain 1 – 557 Solute carrier family 22 member 5
Transmembrane 463 – 483 Helical; Name=11
Modified residue 486 – 486 Phosphotyrosine


Literature citations

Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency.
Koizumi A.; Nozaki J.; Ohura T.; Kayo T.; Wada Y.; Nezu J.; Ohashi R.; Tamai I.; Shoji Y.; Takada G.; Kibira S.; Matsuishi T.; Tsuji A.;
Hum. Mol. Genet. 8:2247-2254(1999)
Cited for: VARIANTS CDSP LEU-179; CYS-283 AND CYS-467; CHARACTERIZATION OF VARIANTS CDSP LEU-179; CYS-283 AND CYS-467;

Expanded newborn screening identifies maternal primary carnitine deficiency.
Schimmenti L.A.; Crombez E.A.; Schwahn B.C.; Heese B.A.; Wood T.C.; Schroer R.J.; Bentler K.; Cederbaum S.; Sarafoglou K.; McCann M.; Rinaldo P.; Matern D.; di San Filippo C.A.; Pasquali M.; Berry S.A.; Longo N.;
Mol. Genet. Metab. 90:441-445(2007)
Cited for: VARIANTS CDSP SER-32; SER-46; CYS-467 AND CYS-488; CHARACTERIZATION OF VARIANT CDSP SER-46;

Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency.
Li F.-Y.; El-Hattab A.W.; Bawle E.V.; Boles R.G.; Schmitt E.S.; Scaglia F.; Wong L.-J.;
Hum. Mutat. 31:E1632-E1651(2010)
Cited for: VARIANTS CDSP SER-12; TRP-15; LEU-17; SER-32; SER-46; LEU-83; TYR-122; SER-142; TRP-169; GLN-169; PRO-186; VAL-214; HIS-227; MET-232; TRP-257; ARG-264; GLN-282; LEU-355; LEU-398; TRP-399; MET-440; ILE-442; VAL-443; ASP-449; LYS-452; ARG-455; CYS-467; CYS-488 AND SER-507; VARIANTS PRO-66; PRO-75; ALA-96; GLY-123; LEU-143; VAL-177; LEU-230; THR-240; VAL-312; ASN-358 AND SER-549;

Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.
Lee N.-C.; Tang N.-L.; Chien Y.-H.; Chen C.-A.; Lin S.-J.; Chiu P.-C.; Huang A.-C.; Hwu W.-L.;
Mol. Genet. Metab. 100:46-50(2010)
Cited for: VARIANTS CDSP LEU-17; ARG-234; GLN-282; LEU-362; CYS-467 AND CYS-471; VARIANT LEU-143;

Genotype-phenotype correlation in primary carnitine deficiency.
Rose E.C.; di San Filippo C.A.; Ndukwe Erlingsson U.C.; Ardon O.; Pasquali M.; Longo N.;
Hum. Mutat. 33:118-123(2012)
Cited for: VARIANTS CDSP TRP-15; PRO-19; PHE-22 DEL; ASN-26; SER-32; SER-46; LEU-83; SER-142; GLN-169; TRP-169; VAL-214; MET-232; PHE-280; GLN-282; ARG-283; ARG-351; MET-440; ILE-442; PHE-446; CYS-447; CYS-467; PRO-471 AND HIS-488; CHARACTERIZATION OF VARIANTS CDSP TRP-15; PRO-19; PHE-22 DEL; ASN-26; SER-32; SER-46; LEU-83; GLN-169; TRP-169; VAL-214; MET-232; PHE-280; GLN-282; ARG-283; ARG-351; MET-440; ILE-442; PHE-446; CYS-447; CYS-467 AND PRO-471;

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.