Variant position: 83 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:
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 RNHTVPLRLRDGREVPHSCR RYRLATIANFSALGLEPGRDV
Mouse RNHSIPLETKDGRQVPQKCR RYRLATIANFSELGLEPGRDV
Rat RNHSIPLETKDGRQVPQSCR RYRLATIANFSALGLEPGRDV
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
1 – 557 Solute carrier family 22 member 5
42 – 142 Extracellular
64 – 64 N-linked (GlcNAc...)
91 – 91 N-linked (GlcNAc...)
1 – 336 Missing. In isoform 2.
Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.
Makhseed N.; Vallance H.D.; Potter M.; Waters P.J.; Wong L.T.K.; Lillquist Y.; Pasquali M.; Amat di San Filippo C.; Longo N.;
J. Inherit. Metab. Dis. 27:778-780(2004)
Cited for: VARIANT CDSP LEU-83;
Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene.
Dobrowolski S.F.; McKinney J.T.; Amat di San Filippo C.; Giak Sim K.; Wilcken B.; Longo N.;
Hum. Mutat. 25:306-313(2005)
Cited for: VARIANTS CDSP PRO-19; LEU-83; TRP-169; MET-232; VAL-242; ASP-301; ARG-351; GLN-399; CYS-447; ASP-449; LYS-452 AND ARG-468; CHARACTERIZATION OF VARIANTS MET-232 AND ARG-468;
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.
El-Hattab A.W.; Li F.-Y.; Shen J.; Powell B.R.; Bawle E.V.; Adams D.J.; Wahl E.; Kobori J.A.; Graham B.; Scaglia F.; Wong L.-J.;
Genet. Med. 12:19-24(2010)
Cited for: VARIANTS CDSP TRP-15; SER-46; LEU-83; SER-142; VAL-214; MET-232; TRP-399 AND ILE-442;
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;
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;
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