Variant position: 428 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 508 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 QPDQFMPERFLNPAGTQLIS PSVSYLPFGAGPRSCIGEILA
Rhesus macaque QPDQFMPERFLNPAGTQLIS PSLSYLPFGAGPRSCIGEILA
Chimpanzee QPDQFMPERFLNPAGTQLIS PSVSYLPFGAGPRSCIGEILA
Mouse QPDRFMPERFLDPTGSHLIT PTPSYLPFGAGPRSCIGEALA
Rat QPDQFMPERFLDPTGSHLIT PTQSYLPFGAGPRSCIGEALA
Pig RPDLFMPERFLDPTGTQLIS PSLSYLPFGAGPRSCVGEMLA
Bovine HPDLFMPERFLDPTGTQLIS PSLSYLPFGAGPRSCVGEMLA
Goat QPDLFMPERFLDPTGTQLIS PSLSYLPFGAGPRSCVGEMLA
Sheep QPDLFMPERFLDPTGTQLIS PSLSYLPFGAGPRSCVGEMLA
Cat RPDQFMPERFLDPTRSQLIS PSLSYLPFGAGPRSCLGESLA
Horse QPDRFMPERFLDPTGSQLIS PSLSYLPFGAGPRSCIGELLA
Chicken KPEEFNPGRFLDEQGQHIHS PSPSYLPFGAGIRVCLGEVLA
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 – 508 Steroid 17-alpha-hydroxylase/17,20 lyase
442 – 442 Iron (heme axial ligand)
P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping.
Martin R.M.; Lin C.J.; Costa E.M.F.; de Oliveira M.L.; Carrilho A.; Villar H.; Longui C.A.; Mendonca B.B.;
J. Clin. Endocrinol. Metab. 88:5739-5746(2003)
Cited for: VARIANTS AH5 TRP-96; ASP-329; CYS-362; ARG-406 AND LEU-428;
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.