Variant position: 342 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 PQVKKKLYEEIDQNVGFSRT PTISDRNRLLLLEATIREVLR
Rhesus macaque PQVKKKLYEEIDQNVGFSRT PTISDRNRLLLLEATIREVLR
Chimpanzee PQVKKKLYEEIDQNVGFSRT PTISDRNRLLLLEATIREVLR
Mouse PEVKRKIQKEIDQYVGFSRT PSFNDRTHLLMLEATIREVLR
Rat PEVKKKIQKEIDQYVGFSRT PTFNDRSHLLMLEATIREVLR
Pig PLLRKKIQDAIDQNIGFNRA PSISDRNQLVLLEATIREVLR
Bovine PSLKKRIQDDIDQIIGFNRT PTISDRNRLVLLEATIREVLR
Goat PSLKKRIQDSIDQNIGFNRT PTISDRNCLVLLEATIREVLR
Sheep PSLKKRIQDSIDQNIGFNRT PTISDRNRLVLLEATIREVLR
Cat PQLYKKLQEEIDQNIGFSRT PTMSDRNQLILLEATIREVLR
Horse PQLKKKIQEEIDQNVGFSRT PTLSDRNRLLLLEATIREVLR
Chicken PEVQKKIQEEMDQKIGLARH PHLSDRPLLPYLEATISEGLR
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
Compound heterozygous mutations (Arg 239-->Stop, Pro 342-->Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17,20-lyase deficiency.
Ahlgren R.; Yanase T.; Simpson E.R.; Winter J.S.D.; Waterman M.R.;
J. Clin. Endocrinol. Metab. 74:667-672(1992)
Cited for: VARIANT AH5 THR-342;
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.