Variant position: 503 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 551 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 AYNRMLPYIVMGSLTVLIGI LTLFFPESLGMTLPETLEQMQ
Mouse AYNRLLPYILMGSLTVLIGI ITLFFPESFGVTLPENLEQMQ
Rat AYNRLLPYILMGSLTVLIGI ITLFFPESFGVTLPENLEQMQ
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 – 551 Solute carrier family 22 member 4
487 – 507 Helical; Name=12
Cloning and characterization of a novel human pH-dependent organic cation transporter, OCTN1.
Tamai I.; Yabuuchi H.; Nezu J.; Sai Y.; Oku A.; Shimane M.; Tsuji A.;
FEBS Lett. 419:107-111(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; TISSUE SPECIFICITY; BIOPHYSICOCHEMICAL PROPERTIES; VARIANTS THR-306 AND PHE-503;
Functional variants of OCTN cation transporter genes are associated with Crohn disease.
Peltekova V.D.; Wintle R.F.; Rubin L.A.; Amos C.I.; Huang Q.; Gu X.; Newman B.; Van Oene M.; Cescon D.; Greenberg G.; Griffiths A.M.; St George-Hyslop P.H.; Siminovitch K.A.;
Nat. Genet. 36:471-475(2004)
Cited for: VARIANT PHE-503; TISSUE SPECIFICITY;
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