Variant position: 348 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 516 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 WSLMYLVTKPEIQRKIQKEL DTVIGRERRPRLSDRPQLPYL
Mouse WSILLLVTWPNVQRKIHEEL DTVVGRDRQPRLSDRPQLPYL
Rat WSILLLVTEPKVQRKIHEEL DTVIGRDRQPRLSDRPQLPYL
Rabbit WSLMYLVTNPRRQRKIQEEL DAVVGRARQPRLSDRPQLPYL
Cat WSLMYLVTNPEKQRKIQEEL DTVVGRARRPRLSDRLQLPYL
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.
Functional characterization of four allelic variants of human cytochrome P450 1A2.
Zhou H.; Josephy P.D.; Kim D.; Guengerich F.P.;
Arch. Biochem. Biophys. 422:23-30(2004)
Cited for: FUNCTION; BIOPHYSICOCHEMICAL PROPERTIES; CHARACTERIZATION OF VARIANTS ASN-348; PHE-386; TYR-406 AND TRP-431;
Five novel natural allelic variants-951A->C, 1042G->A (D348N), 1156A->T (I386F), 1217G->A (C406Y) and 1291C->T (C431Y)-of the human CYP1A2 gene in a French Caucasian population.
Chevalier D.; Cauffiez C.; Allorge D.; Lo-Guidice J.-M.; Lhermitte M.; Lafitte J.-J.; Broly F.;
Hum. Mutat. 17:355-356(2001)
Cited for: VARIANTS ASN-348; PHE-386; TYR-406 AND TRP-431;
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.