Variant position: 177 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 LATHNGQSIDISFPVFVAVT NVISLICFNTSYKNGDPELNV
Rhesus macaque LATHNGQTIDISFPVFVAIT NVISLICFNISYKNGDPELKI
Chimpanzee LATHNGQSIDISFPVFVAVT NVISLICFNTSYKNGDPELNI
Mouse ILTYDGESRDLSTLIFKSVI NIICTICFNISFENKDPILTT
Rat MLAHDKESIDLSTPIFMSVT NIICAICFNISYEKNDPKLTA
Pig LATRNGESIDLAQPLSLAMT NIVSFICFNFSFKKGDPALQA
Bovine LATQHGEAIDLSEPLSLAVT NIISFICFNFSFKNEDPALKA
Goat LATQHGQSIDLSEPLSLAVT NIISFICFNFSFKNEDPALKA
Sheep LATQHGQSIDLSEPLSLAVT NIISFICFNFSFKNEDPALKA
Cat LAMQDGQSIDLYLPLFLAVT NIICLICFNSSFKNGDPALKI
Horse LATQNGQTIDLSSPLFLAVT NVICWICFNSSYMKGDPALET
Chicken LGAAQDMALDMAPELTRAVT NVVCSLCFNSSYRRGDPEFEA
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
168 – 184
17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation.
Biason-Lauber A.; Kempken B.; Werder E.; Forest M.G.; Einaudi S.; Ranke M.B.; Matsuo N.; Brunelli V.; Schoenle E.J.; Zachmann M.;
J. Clin. Endocrinol. Metab. 85:1226-1231(2000)
Cited for: VARIANTS AH5 LEU-35; PHE-53 DEL; TRP-96; ASP-177; GLU-330 DEL; CYS-417 AND HIS-496; PHOSPHORYLATION;
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.