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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O76082: Variant p.Ser467Cys

Organic cation/carnitine transporter 2
Gene: SLC22A5
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Variant information Variant position: help 467
Type of variant: help LP/P [Disclaimer]
Residue change: help From Serine (S) to Cysteine (C) at position 467 (S467C, p.Ser467Cys).
Physico-chemical properties: help Change from small size and polar (S) to medium size and polar (C)
BLOSUM score: help -1
Variant description: help In CDSP; reduces carnitine transport to less than 20% of wild-type activity.
Other resources: help


Sequence information Variant position: help 467
Protein sequence length: help 557
Location on the sequence: help YVYTAELYPTVVRNMGVGVS S TASRLGSILSPYFVYLGAYD
Residue conservation: help 
Human                         YVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLGAYD

Mouse                         YVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLGAYD

Rat                           YVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLGAYD
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 557 Organic cation/carnitine transporter 2
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; Functional and molecular studies in primary carnitine deficiency.
Frigeni M.; Balakrishnan B.; Yin X.; Calderon F.R.O.; Mao R.; Pasquali M.; Longo N.;
Hum. Mutat. 38:1684-1699(2017)
Cited for: VARIANTS CDSP 4-TYR--PHE-557 DEL; SER-12; TRP-15; LEU-16; LEU-17; PRO-19; HIS-20; PHE-22 DEL; ASN-26; ILE-28; SER-32; VAL-44; LEU-46; SER-46; TYR-50; PRO-66; PRO-75; LEU-83; TRP-93; VAL-95; ALA-96; GLY-115; 117-TRP--PHE-557 DEL; GLY-123; ASP-131; 132-TRP--PHE-557 DEL; 140-TRP--PHE-557 DEL; SER-142; LEU-143; MET-151; GLN-169; PRO-169; TRP-169; MET-175; VAL-177; LEU-179; PRO-186; ARG-205; SER-210; CYS-211; VAL-214; LYS-219; LEU-225; HIS-227; LEU-230; PHE-231; MET-232; THR-240; VAL-242; ARG-247; 254-ARG--PHE-557 DEL; GLN-254; 256-TRP--PHE-557 DEL; TRP-257; ARG-264; MET-264; PRO-269; 275-TRP--PHE-557 DEL; PHE-280; 282-ARG--PHE-557 DEL; GLN-282; ARG-283; CYS-283; 289-ARG--PHE-557 DEL; 295-VAL--PHE-557 DEL; ASP-301; VAL-312; LYS-317; 319-GLN--PHE-557 DEL; THR-348; ARG-351; LEU-355; ASN-358; PRO-363; 387-TYR--PHE-557 DEL; LEU-394 DEL; LEU-398; GLN-399; TRP-399; GLY-412; GLY-439; MET-440; ILE-442; VAL-443; PHE-446; CYS-447; LEU-448; ASP-449; LYS-452; ARG-455; VAL-462; CYS-467; ARG-468; PHE-470; HIS-471; PRO-471; ARG-476; LEU-478; CYS-488; HIS-488 AND SER-507; VARIANTS PHE-481 AND SER-549; CHARACTERIZATION OF VARIANTS CDSP SER-12; TRP-15; LEU-16; LEU-17; PRO-19; HIS-20; PHE-23 DEL; ASN-26; ILE-28; SER-32; VAL-44; LEU-46; SER-46; TYR-50; PRO-66; PRO-75; LEU-83; TRP-93; VAL-95; ALA-96; GLY-115; GLY-123; ASP-131; SER-142; LEU-143; MET-151; GLN-169; PRO-169; TRP-169; MET-175; VAL-177; LEU-179; PRO-186; ARG-205; SER-210; CYS-211; VAL-214; LYS-219; LEU-225; HIS-227; LEU-230; PHE-231; MET-232; THR-240; VAL-242; ARG-247; GLN-254; TRP-257; ARG-264; MET-264; PRO-269; PHE-280; GLN-282; ARG-283; CYS-283; ASP-301; VAL-312; LYS-317; THR-348; ARG-351; LEU-355; ASN-358; PRO-363; LEU-394 DEL; LEU-398; GLN-399; TRP-399; GLY-412; GLY-439; MET-440; ILE-442; VAL-443; PHE-446; CYS-447; LEU-448; ASP-449; LYS-452; ARG-455; VAL-462; CYS-467; ARG-468; PHE-470; HIS-471; PRO-471; ARG-476; LEU-478; CYS-488; HIS-488 AND SER-507; CHARACTERIZATION OF VARIANTS PHE-481 AND SER-549;
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.