Variant position: 440 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 PAGTQLISPSVSYLPFGAGP RSCIGEILARQELFLIMAWLL
Rhesus macaque PAGTQLISPSLSYLPFGAGP RSCIGEILARQELFLIMAWLL
Chimpanzee PAGTQLISPSVSYLPFGAGP RSCIGEILARQELFLIMAWLL
Mouse PTGSHLITPTPSYLPFGAGP RSCIGEALARQELFIFMALLL
Rat PTGSHLITPTQSYLPFGAGP RSCIGEALARQELFVFTALLL
Pig PTGTQLISPSLSYLPFGAGP RSCVGEMLARQELFLFTAGLL
Bovine PTGTQLISPSLSYLPFGAGP RSCVGEMLARQELFLFMSRLL
Goat PTGTQLISPSLSYLPFGAGP RSCVGEMLARQELFLFMSRLL
Sheep PTGTQLISPSLSYLPFGAGP RSCVGEMLARQELFLFMSRLL
Cat PTRSQLISPSLSYLPFGAGP RSCLGESLARQEVFLFMAWLL
Horse PTGSQLISPSLSYLPFGAGP RSCIGELLARQELFLFTAWLL
Chicken EQGQHIHSPSPSYLPFGAGI RVCLGEVLAKMELFLFLAWVL
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)
438 – 440
Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency.
Fardella C.E.; Hum D.W.; Homoki J.; Miller W.L.;
J. Clin. Endocrinol. Metab. 79:160-164(1994)
Cited for: VARIANT AH5 HIS-440;
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.