Variant position: 174 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 CDMLATHNGQSIDISFPVFV AVTNVISLICFNTSYKNGDPE
Rhesus macaque CDMLATHNGQTIDISFPVFV AITNVISLICFNISYKNGDPE
Chimpanzee CDMLATHNGQSIDISFPVFV AVTNVISLICFNTSYKNGDPE
Mouse CDLILTYDGESRDLSTLIFK SVINIICTICFNISFENKDPI
Rat CDMMLAHDKESIDLSTPIFM SVTNIICAICFNISYEKNDPK
Pig CDFLATRNGESIDLAQPLSL AMTNIVSFICFNFSFKKGDPA
Bovine CDFLATQHGEAIDLSEPLSL AVTNIISFICFNFSFKNEDPA
Goat CDFLATQHGQSIDLSEPLSL AVTNIISFICFNFSFKNEDPA
Sheep CDFLATQHGQSIDLSEPLSL AVTNIISFICFNFSFKNEDPA
Cat CDNLAMQDGQSIDLYLPLFL AVTNIICLICFNSSFKNGDPA
Horse CDLLATQNGQTIDLSSPLFL AVTNVICWICFNSSYMKGDPA
Chicken CETLGAAQDMALDMAPELTR AVTNVVCSLCFNSSYRRGDPE
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
A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.
Kim Y.M.; Kang M.; Choi J.H.; Lee B.H.; Kim G.H.; Ohn J.H.; Kim S.Y.; Park M.S.; Yoo H.W.;
Cited for: VARIANTS AH5 GLU-174; LEU-373 AND LEU-406; CHARACTERIZATION OF VARIANT AH5 LEU-406;
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