UniProtKB/Swiss-Prot O76082: Variant p.Pro478Leu

Organic cation/carnitine transporter 2
Gene: SLC22A5
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Variant information Variant position:

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

LP/P [Disclaimer] 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 Proline (P) to Leucine (L) at position 478 (P478L, p.Pro478Leu). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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; loss of carnitine transport but stimulated organic cation transport; no effect on protein expression. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs72552735 [ dbSNP | Ensembl ]

Sequence information Variant position:

478 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:

VRNMGVGVSSTASRLGSILS P YFVYLGAYDRFLPYILMGSL 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                         VRNMGVGVSSTASRLGSILSPYFVYLGAYDRFLPYILMGSL

Mouse                         VRNMGVGVSSTASRLGSILSPYFVYLGAYDRFLPYILMGSL

Rat                           VRNMGVGVSSTASRLGSILSPYFVYLGAYDRFLPYILMGSL

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 – 557	Organic cation/carnitine transporter 2
Transmembrane	463 – 483	Helical; Name=11
Modified residue	486 – 486	Phosphotyrosine

Literature citations
Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency.
Tang N.L.; Ganapathy V.; Wu X.; Hui J.; Seth P.; Yuen P.M.; Wanders R.J.; Fok T.F.; Hjelm N.M.;
Hum. Mol. Genet. 8:655-660(1999)
Cited for: VARIANT CDSP LEU-478; Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function.
Seth P.; Wu X.; Huang W.; Leibach F.H.; Ganapathy V.;
J. Biol. Chem. 274:33388-33392(1999)
Cited for: CHARACTERIZATION OF VARIANT CDSP LEU-478; MUTAGENESIS OF MET-352; Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter.
Wu X.; Huang W.; Prasad P.D.; Seth P.; Rajan D.P.; Leibach F.H.; Chen J.; Conway S.J.; Ganapathy V.;
J. Pharmacol. Exp. Ther. 290:1482-1492(1999)
Cited for: FUNCTION; TISSUE SPECIFICITY; CHARACTERIZATION OF VARIANT CDSP LEU-478; MUTAGENESIS OF MET-352; TRANSPORTER ACTIVITY; 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.