Variant position: 242 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 LGKSVRIIFSTLGVCIFYAF GYMVLPLFAYFIRDWRMLLVA
Mouse LSKSIRIIFATLGVCIFYAF GFMVLPLFAYFIRDWRMLLLA
Rat LSKSIRIIFATLGVCIFYAF GFMVLPLFAYFIRDWRMLLLA
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
233 – 253 Helical; Name=5
1 – 336 Missing. In isoform 2.
Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation.
Wang Y.; Taroni F.; Garavaglia B.; Longo N.;
Hum. Mutat. 16:401-407(2000)
Cited for: VARIANTS CDSP TRP-169; VAL-242; ASP-301 AND ARG-351; CHARACTERIZATION OF VARIANTS CDSP TRP-169; VAL-242; ASP-301 AND ARG-351;
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;
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.