Variant position: 106 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 LIKKGKDFSGRPQMATLDIA SNNRKGIAFADSGAHWQLHRR
Rhesus macaque LIKKGKDFSGRPQVTTLDIL SNNRKGIAFADYGAHWQLHRR
Chimpanzee LIKKGKDFSGRPQMATLDIA SNNRKGIAFADSGAHWQLHRR
Mouse LVKKGKEFSGRPQMVTLGLL SDQGKGVAFADSSSSWQLHRK
Rat LIKKGKEFSGRPQMVTQSLL SDQGKGVAFADAGSSWHLHRK
Pig LLKKGKEFSGRPRVMTLDIL SDNQKGIAFADHGTSWQLHRK
Bovine LLKKGKEFSGRPKVATLDIL SDNQKGIAFADHGAHWQLHRK
Goat LLKKGKEFSGRPKVATLDIL SDNQKGIAFADHGAHWQLHRK
Sheep LLKKGKEFSGRPKVATLDIL SDNQKGIAFADHGAHWQLHRK
Cat LVKKGKEFSGRPHVVTLDIL SDNQKGIAFADHGASWQMHRK
Horse LIKKGKEFSGRPQVATLNIL SDNQKGVAFADHGAPWQLHRK
Chicken LLKKGKAFAGRPRTVTTDLL SRGGKDIAFASYGPLWKFQRK
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
105 – 105 A -> L. Increases the affinity for progesterone, resulting in preferential hydroxylation of progesterone at C17 over C16; increases the catalytic efficiency in the 17,20 lyase reaction.
106 – 109
Missense mutation serine106-->proline causes 17 alpha-hydroxylase deficiency.
Lin D.; Harikrishna J.A.; Moore C.C.D.; Jones K.L.; Miller W.L.;
J. Biol. Chem. 266:15992-15998(1991)
Cited for: VARIANT AH5 PRO-106;
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.