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Protein

Steroid 21-hydroxylase

Gene

CYP21A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids (PubMed:22014889).2 Publications

Catalytic activityi

A C(21) steroid + [reduced NADPH--hemoprotein reductase] + O2 = a 21-hydroxy-C(21)-steroid + [oxidized NADPH--hemoprotein reductase] + H2O.3 Publications

Cofactori

heme1 Publication

Kineticsi

  1. KM=1.59 µM for 17-hydroxyprogesterone1 Publication
  2. KM=1.05 µM for progesterone1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Binding sitei233Substrate1 Publication1
    Metal bindingi428Iron (heme axial ligand)1 Publication1

    GO - Molecular functioni

    • heme binding Source: UniProtKB
    • iron ion binding Source: InterPro
    • steroid 21-monooxygenase activity Source: UniProtKB
    • steroid binding Source: UniProtKB-KW
    • steroid hydroxylase activity Source: UniProtKB

    GO - Biological processi

    • glucocorticoid biosynthetic process Source: Reactome
    • mineralocorticoid biosynthetic process Source: Reactome
    • steroid biosynthetic process Source: UniProtKB
    • steroid metabolic process Source: UniProtKB
    • sterol metabolic process Source: Reactome
    Complete GO annotation...

    Keywords - Molecular functioni

    Monooxygenase, Oxidoreductase

    Keywords - Biological processi

    Steroidogenesis

    Keywords - Ligandi

    Heme, Iron, Lipid-binding, Metal-binding, Steroid-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:HS09769-MONOMER.
    ZFISH:HS09769-MONOMER.
    BRENDAi1.14.99.10. 2681.
    ReactomeiR-HSA-193993. Mineralocorticoid biosynthesis.
    R-HSA-194002. Glucocorticoid biosynthesis.
    R-HSA-211976. Endogenous sterols.

    Chemistry databases

    SwissLipidsiSLP:000001618.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Steroid 21-hydroxylase (EC:1.14.14.163 Publications)
    Alternative name(s):
    21-OHase
    Cytochrome P-450c21
    Cytochrome P450 21
    Cytochrome P450 XXI
    Cytochrome P450-C21
    Cytochrome P450-C21B
    Gene namesi
    Name:CYP21A2
    Synonyms:CYP21, CYP21B
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:2600. CYP21A2.

    Subcellular locationi

    GO - Cellular componenti

    Complete GO annotation...

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane, Microsome

    Pathology & Biotechi

    Involvement in diseasei

    Adrenal hyperplasia 3 (AH3)51 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH)and 'cryptic' (asymptomatic).
    See also OMIM:201910
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_02605915A → T in AH3; salt wasting form; no significant difference in activity compared with the wild-type. 2 PublicationsCorresponds to variant rs63749090dbSNPEnsembl.1
    Natural variantiVAR_00128130P → L in AH3; non-classic form; 50% activity; 10% of non-classic AH3 Texan patients. 17 PublicationsCorresponds to variant rs9378251dbSNPEnsembl.1
    Natural variantiVAR_02606030P → Q in AH3; does not affect membrane binding; enzyme function abolished. 1 Publication1
    Natural variantiVAR_06566856G → R in AH3; loss of activity. 1 Publication1
    Natural variantiVAR_01836462H → L in AH3; non-classic form; simple virilizing form when associated with a second mild mutation such as S-453 or L-30; activity is significantly reduced in association with S-453. 3 PublicationsCorresponds to variant rs9378252dbSNPEnsembl.1
    Natural variantiVAR_00792364G → E in AH3; no activity. 1 Publication1
    Natural variantiVAR_06566977I → T in AH3; simple virilizing form. 1 Publication1
    Natural variantiVAR_02606190G → V in AH3. 1 Publication1
    Natural variantiVAR_001284105P → L in AH3. 2 PublicationsCorresponds to variant rs550051210dbSNPEnsembl.1
    Natural variantiVAR_065670107L → R in AH3; loss of activity. 1 Publication1
    Natural variantiVAR_065671121K → Q in AH3; non-classic form; reduced activity; decreased affinity for 17-hydroxyprogesterone and progesterone. 1 PublicationCorresponds to variant rs547552654dbSNPEnsembl.1
    Natural variantiVAR_026062124R → H in AH3. 1 PublicationCorresponds to variant rs72552750dbSNPEnsembl.1
    Natural variantiVAR_065672142L → P in AH3; loss of activity. 1 Publication1
    Natural variantiVAR_065673167L → P in AH3; salt wasting form; loss of activity. 1 Publication1
    Natural variantiVAR_075372169C → R in AH3; exhibits low hydroxylase activity toward 17-hydroxyprogesterone and progesterone. 1 Publication1
    Natural variantiVAR_001285169C → Y in AH3. 1 Publication1
    Natural variantiVAR_001286172I → N in AH3; simple virilizing form; 1-4% activity. 26 PublicationsCorresponds to variant rs6475dbSNPEnsembl.1
    Natural variantiVAR_026063178G → A in AH3. 1 PublicationCorresponds to variant rs72552751dbSNPEnsembl.1
    Natural variantiVAR_075373178G → R in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 PublicationCorresponds to variant rs772317717dbSNPEnsembl.1
    Natural variantiVAR_075374191Y → H in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 Publication1
    Natural variantiVAR_008688196Missing in AH3; moderate. 1 Publication1
    Natural variantiVAR_075375198L → F in AH3. 1 PublicationCorresponds to variant rs143240527dbSNPEnsembl.1
    Natural variantiVAR_026064211V → L in AH3; non-classic form; pathogenicity uncertain. 1 Publication1
    Natural variantiVAR_065674230I → T in AH3. 1 Publication1
    Natural variantiVAR_065675233R → K in AH3. 1 Publication1
    Natural variantiVAR_001288236I → N in AH3; salt wasting form. 5 PublicationsCorresponds to variant rs111647200dbSNPEnsembl.1
    Natural variantiVAR_001289237V → E in AH3; salt wasting form. 3 PublicationsCorresponds to variant rs12530380dbSNPEnsembl.1
    Natural variantiVAR_001290239M → K in AH3; salt wasting form. 3 PublicationsCorresponds to variant rs6476dbSNPEnsembl.1
    Natural variantiVAR_026065261L → P in AH3. 1 PublicationCorresponds to variant rs750337015dbSNPEnsembl.1
    Natural variantiVAR_026066281V → G in AH3; salt wasting form. 1 Publication1
    Natural variantiVAR_001292281V → L in AH3; non-classic form; 50% activity; most common variant; normal KM but 20% reduced Vmax. 23 PublicationsCorresponds to variant rs6471dbSNPEnsembl.1
    Natural variantiVAR_075376282H → N in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 Publication1
    Natural variantiVAR_026067283M → L in AH3. 1 Publication1
    Natural variantiVAR_026068291G → C in AH3. 1 Publication1
    Natural variantiVAR_018365291G → R in AH3. 1 PublicationCorresponds to variant rs201552310dbSNPEnsembl.1
    Natural variantiVAR_001293291G → S in AH3; salt wasting form; less then 1% activity. 6 PublicationsCorresponds to variant rs201552310dbSNPEnsembl.1
    Natural variantiVAR_065676292G → D in AH3; salt wasting form; less then 1% activity. 1 Publication1
    Natural variantiVAR_026069300L → F in AH3; salt wasting form. 1 PublicationCorresponds to variant rs765001985dbSNPEnsembl.1
    Natural variantiVAR_018366301S → Y in AH3. 1 Publication1
    Natural variantiVAR_075377302W → R in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 Publication1
    Natural variantiVAR_026071317L → M in AH3. 1 Publication1
    Natural variantiVAR_065677320E → K in AH3; simple virilizing form; 4% activity. 1 Publication1
    Natural variantiVAR_001294339R → H in AH3; non-classic form; 50% activity. 1 PublicationCorresponds to variant rs72552754dbSNPEnsembl.1
    Natural variantiVAR_018367341R → P in AH3; simple virilizing form. 3 Publications1
    Natural variantiVAR_001295341R → W in AH3; non-classic form; mild. Corresponds to variant rs777860817dbSNPEnsembl.1
    Natural variantiVAR_026072354R → C in AH3; salt wasting form. 1 PublicationCorresponds to variant rs772900496dbSNPEnsembl.1
    Natural variantiVAR_026073354R → H in AH3; salt wasting form. 2 PublicationsCorresponds to variant rs760216630dbSNPEnsembl.1
    Natural variantiVAR_001296356R → P in AH3; salt wasting form; 0.15% activity. 1 Publication1
    Natural variantiVAR_001297356R → Q in AH3; simple virilizing form; mild; 0.65% activity. 3 PublicationsCorresponds to variant rs574370139dbSNPEnsembl.1
    Natural variantiVAR_001298356R → W in AH3; salt wasting form. 21 PublicationsCorresponds to variant rs7769409dbSNPEnsembl.1
    Natural variantiVAR_007924362A → V in AH3; no activity. 1 Publication1
    Natural variantiVAR_026074363L → W in AH3. 1 Publication1
    Natural variantiVAR_026075365H → Y in AH3. 1 Publication1
    Natural variantiVAR_065678369R → W in AH3. 1 PublicationCorresponds to variant rs781074931dbSNPEnsembl.1
    Natural variantiVAR_001299380E → D in AH3; salt wasting form. 1 PublicationCorresponds to variant rs72552756dbSNPEnsembl.1
    Natural variantiVAR_026077408R → C in AH3; very low residual activity. 3 PublicationsCorresponds to variant rs72552757dbSNPEnsembl.1
    Natural variantiVAR_026078424G → S in AH3; very low activity. 4 PublicationsCorresponds to variant rs72552758dbSNPEnsembl.1
    Natural variantiVAR_075378426R → C in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 Publication1
    Natural variantiVAR_026079426R → H in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone. 2 PublicationsCorresponds to variant rs151344504dbSNPEnsembl.1
    Natural variantiVAR_026080435R → C in AH3. 1 PublicationCorresponds to variant rs767333157dbSNPEnsembl.1
    Natural variantiVAR_001300453P → S in AH3; non-classic form; simple virilizing form when associated with L-62; 50% of activity; almost completely abolished enzyme activity when associated with S-375. 18 PublicationsCorresponds to variant rs6445dbSNPEnsembl.1
    Natural variantiVAR_026081479R → L in AH3. 1 PublicationCorresponds to variant rs184649564dbSNPEnsembl.1
    Natural variantiVAR_026082482P → S in AH3; reduced enzyme activity to 70% of normal. 1 PublicationCorresponds to variant rs776989258dbSNPEnsembl.1
    Natural variantiVAR_001301483R → P in AH3; moderate; 1-2% of activity. 7 PublicationsCorresponds to variant rs200005406dbSNPEnsembl.1
    Natural variantiVAR_018368483R → Q in AH3. 1 PublicationCorresponds to variant rs200005406dbSNPEnsembl.1
    Natural variantiVAR_026083483R → W in AH3; salt wasting form. 1 PublicationCorresponds to variant rs759736443dbSNPEnsembl.1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Mutagenesisi268S → C, M or T: No loss of function. 1 Publication1
    Mutagenesisi281V → I: Normal KM but 50% reduced Vmax. 1
    Mutagenesisi281V → T: Normal KM but 10% reduced Vmax. 1
    Mutagenesisi428C → M, S or T: Loss of activity and loss of P450 absorption. 1 Publication1

    Keywords - Diseasei

    Congenital adrenal hyperplasia, Disease mutation

    Organism-specific databases

    DisGeNETi1589.
    MalaCardsiCYP21A2.
    MIMi201910. phenotype.
    OpenTargetsiENSG00000198457.
    ENSG00000235134.
    Orphaneti315306. Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form.
    315311. Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form.
    95698. Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    PharmGKBiPA27096.

    Chemistry databases

    ChEMBLiCHEMBL2759.
    DrugBankiDB01026. Ketoconazole.

    Polymorphism and mutation databases

    BioMutaiCYP21A2.
    DMDMi117275.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    ChainiPRO_00000519761 – 494Steroid 21-hydroxylaseAdd BLAST494

    Proteomic databases

    PaxDbiP08686.
    PeptideAtlasiP08686.
    PRIDEiP08686.

    PTM databases

    iPTMnetiP08686.
    PhosphoSitePlusiP08686.

    Expressioni

    Gene expression databases

    BgeeiENSG00000198457.
    CleanExiHS_CYP21A2.
    ExpressionAtlasiP08686. baseline and differential.
    GenevisibleiP08686. HS.

    Organism-specific databases

    HPAiHPA048979.
    HPA053371.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000408860.

    Chemistry databases

    BindingDBiP08686.

    Structurei

    Secondary structure

    1494
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Helixi38 – 40Combined sources3
    Helixi44 – 50Combined sources7
    Helixi52 – 55Combined sources4
    Beta strandi57 – 63Combined sources7
    Beta strandi66 – 71Combined sources6
    Helixi74 – 81Combined sources8
    Turni82 – 84Combined sources3
    Helixi85 – 88Combined sources4
    Helixi95 – 99Combined sources5
    Helixi114 – 128Combined sources15
    Turni129 – 134Combined sources6
    Helixi135 – 150Combined sources16
    Helixi160 – 177Combined sources18
    Helixi179 – 182Combined sources4
    Turni183 – 185Combined sources3
    Helixi187 – 201Combined sources15
    Helixi204 – 211Combined sources8
    Helixi213 – 216Combined sources4
    Helixi223 – 245Combined sources23
    Helixi256 – 261Combined sources6
    Helixi278 – 309Combined sources32
    Helixi311 – 324Combined sources14
    Turni336 – 338Combined sources3
    Helixi343 – 355Combined sources13
    Beta strandi369 – 373Combined sources5
    Beta strandi376 – 378Combined sources3
    Beta strandi383 – 386Combined sources4
    Helixi388 – 392Combined sources5
    Turni395 – 397Combined sources3
    Beta strandi398 – 400Combined sources3
    Helixi406 – 409Combined sources4
    Helixi431 – 446Combined sources16
    Beta strandi449 – 457Combined sources9
    Beta strandi478 – 482Combined sources5

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    2GEGmodel-C27-494[»]
    4Y8WX-ray2.64A/B/C29-494[»]
    ProteinModelPortaliP08686.
    SMRiP08686.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Regioni342 – 358Steroid-bindingBy similarityAdd BLAST17

    Domaini

    The leucine-rich hydrophobic amino acid N-terminal region probably helps to anchor the protein to the microsomal membrane.

    Sequence similaritiesi

    Belongs to the cytochrome P450 family.Curated

    Phylogenomic databases

    eggNOGiKOG0156. Eukaryota.
    COG2124. LUCA.
    HOGENOMiHOG000036991.
    HOVERGENiHBG106944.
    InParanoidiP08686.
    KOiK00513.
    OrthoDBiEOG091G074I.
    PhylomeDBiP08686.

    Family and domain databases

    Gene3Di1.10.630.10. 1 hit.
    InterProiIPR001128. Cyt_P450.
    IPR017972. Cyt_P450_CS.
    IPR002401. Cyt_P450_E_grp-I.
    [Graphical view]
    PfamiPF00067. p450. 1 hit.
    [Graphical view]
    PRINTSiPR00463. EP450I.
    PR00385. P450.
    SUPFAMiSSF48264. SSF48264. 1 hit.
    PROSITEiPS00086. CYTOCHROME_P450. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

    Isoform 1 (identifier: P08686-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

            10         20         30         40         50
    MLLLGLLLLP LLAGARLLWN WWKLRSLHLP PLAPGFLHLL QPDLPIYLLG
    60 70 80 90 100
    LTQKFGPIYR LHLGLQDVVV LNSKRTIEEA MVKKWADFAG RPEPLTYKLV
    110 120 130 140 150
    SKNYPDLSLG DYSLLWKAHK KLTRSALLLG IRDSMEPVVE QLTQEFCERM
    160 170 180 190 200
    RAQPGTPVAI EEEFSLLTCS IICYLTFGDK IKDDNLMPAY YKCIQEVLKT
    210 220 230 240 250
    WSHWSIQIVD VIPFLRFFPN PGLRRLKQAI EKRDHIVEMQ LRQHKESLVA
    260 270 280 290 300
    GQWRDMMDYM LQGVAQPSME EGSGQLLEGH VHMAAVDLLI GGTETTANTL
    310 320 330 340 350
    SWAVVFLLHH PEIQQRLQEE LDHELGPGAS SSRVPYKDRA RLPLLNATIA
    360 370 380 390 400
    EVLRLRPVVP LALPHRTTRP SSISGYDIPE GTVIIPNLQG AHLDETVWER
    410 420 430 440 450
    PHEFWPDRFL EPGKNSRALA FGCGARVCLG EPLARLELFV VLTRLLQAFT
    460 470 480 490
    LLPSGDALPS LQPLPHCSVI LKMQPFQVRL QPRGMGAHSP GQNQ
    Length:494
    Mass (Da):55,887
    Last modified:January 1, 1988 - v1
    Checksum:i7E1FF83B59FBA136
    GO
    Isoform 2 (identifier: P08686-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         6-6: L → LL
         68-102: VVVLNSKRTIEEAMVKKWADFAGRPEPLTYKLVSK → KLVSR

    Note: No experimental confirmation available.
    Show »
    Length:465
    Mass (Da):52,597
    Checksum:i467E740266FFCE89
    GO

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Sequence conflicti155G → D in BAB70774 (PubMed:14702039).Curated1
    Sequence conflicti242R → G in BAB70774 (PubMed:14702039).Curated1
    Sequence conflicti277L → Q in BAB70774 (PubMed:14702039).Curated1
    Sequence conflicti304V → A in BAB70774 (PubMed:14702039).Curated1
    Sequence conflicti311P → L in AAA59985 (PubMed:3497399).Curated1
    Sequence conflicti346N → I in AAA59985 (PubMed:3497399).Curated1
    Sequence conflicti426R → P in AAB59440 (PubMed:3486422).Curated1
    Sequence conflicti437E → D in AAB59440 (PubMed:3486422).Curated1

    Polymorphismi

    Seven non deleterious alleles are known: CYP21A2*1A, CYP21A2*1B, CYP21A2*2, CYP21A2*3, CYP21A2*4, CYP21A2*5 and CYP21A2*6. The sequence shown corresponds to allele CYP21A2*1B. Deleterious alleles are mostly generated by recombinations between CYP21A2 and the pseudogene CYP21A1P through gene conversion. This process consists of recombination events that either delete CYP21A2 or transfer deleterious mutations from CYP21A1P to CYP21A2.

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_0183639L → LL in allele CYP21A2*2. 4 Publications1
    Natural variantiVAR_02605915A → T in AH3; salt wasting form; no significant difference in activity compared with the wild-type. 2 PublicationsCorresponds to variant rs63749090dbSNPEnsembl.1
    Natural variantiVAR_00128130P → L in AH3; non-classic form; 50% activity; 10% of non-classic AH3 Texan patients. 17 PublicationsCorresponds to variant rs9378251dbSNPEnsembl.1
    Natural variantiVAR_02606030P → Q in AH3; does not affect membrane binding; enzyme function abolished. 1 Publication1
    Natural variantiVAR_06566856G → R in AH3; loss of activity. 1 Publication1
    Natural variantiVAR_01836462H → L in AH3; non-classic form; simple virilizing form when associated with a second mild mutation such as S-453 or L-30; activity is significantly reduced in association with S-453. 3 PublicationsCorresponds to variant rs9378252dbSNPEnsembl.1
    Natural variantiVAR_00792364G → E in AH3; no activity. 1 Publication1
    Natural variantiVAR_06566977I → T in AH3; simple virilizing form. 1 Publication1
    Natural variantiVAR_02606190G → V in AH3. 1 Publication1
    Natural variantiVAR_00128298K → R.1
    Natural variantiVAR_001283102K → R in allele CYP21A2*3. 3 PublicationsCorresponds to variant rs6474dbSNPEnsembl.1
    Natural variantiVAR_001284105P → L in AH3. 2 PublicationsCorresponds to variant rs550051210dbSNPEnsembl.1
    Natural variantiVAR_065670107L → R in AH3; loss of activity. 1 Publication1
    Natural variantiVAR_065671121K → Q in AH3; non-classic form; reduced activity; decreased affinity for 17-hydroxyprogesterone and progesterone. 1 PublicationCorresponds to variant rs547552654dbSNPEnsembl.1
    Natural variantiVAR_026062124R → H in AH3. 1 PublicationCorresponds to variant rs72552750dbSNPEnsembl.1
    Natural variantiVAR_065672142L → P in AH3; loss of activity. 1 Publication1
    Natural variantiVAR_065673167L → P in AH3; salt wasting form; loss of activity. 1 Publication1
    Natural variantiVAR_075372169C → R in AH3; exhibits low hydroxylase activity toward 17-hydroxyprogesterone and progesterone. 1 Publication1
    Natural variantiVAR_001285169C → Y in AH3. 1 Publication1
    Natural variantiVAR_001286172I → N in AH3; simple virilizing form; 1-4% activity. 26 PublicationsCorresponds to variant rs6475dbSNPEnsembl.1
    Natural variantiVAR_026063178G → A in AH3. 1 PublicationCorresponds to variant rs72552751dbSNPEnsembl.1
    Natural variantiVAR_075373178G → R in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 PublicationCorresponds to variant rs772317717dbSNPEnsembl.1
    Natural variantiVAR_001287183D → E in allele CYP21A2*4. Corresponds to variant rs1040310dbSNPEnsembl.1
    Natural variantiVAR_075374191Y → H in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 Publication1
    Natural variantiVAR_008688196Missing in AH3; moderate. 1 Publication1
    Natural variantiVAR_075375198L → F in AH3. 1 PublicationCorresponds to variant rs143240527dbSNPEnsembl.1
    Natural variantiVAR_026064211V → L in AH3; non-classic form; pathogenicity uncertain. 1 Publication1
    Natural variantiVAR_065674230I → T in AH3. 1 Publication1
    Natural variantiVAR_065675233R → K in AH3. 1 Publication1
    Natural variantiVAR_001288236I → N in AH3; salt wasting form. 5 PublicationsCorresponds to variant rs111647200dbSNPEnsembl.1
    Natural variantiVAR_001289237V → E in AH3; salt wasting form. 3 PublicationsCorresponds to variant rs12530380dbSNPEnsembl.1
    Natural variantiVAR_001290239M → K in AH3; salt wasting form. 3 PublicationsCorresponds to variant rs6476dbSNPEnsembl.1
    Natural variantiVAR_026065261L → P in AH3. 1 PublicationCorresponds to variant rs750337015dbSNPEnsembl.1
    Natural variantiVAR_001291268S → T in allele CYP21A2*5. 4 PublicationsCorresponds to variant rs6472dbSNPEnsembl.1
    Natural variantiVAR_026066281V → G in AH3; salt wasting form. 1 Publication1
    Natural variantiVAR_001292281V → L in AH3; non-classic form; 50% activity; most common variant; normal KM but 20% reduced Vmax. 23 PublicationsCorresponds to variant rs6471dbSNPEnsembl.1
    Natural variantiVAR_075376282H → N in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 Publication1
    Natural variantiVAR_026067283M → L in AH3. 1 Publication1
    Natural variantiVAR_026068291G → C in AH3. 1 Publication1
    Natural variantiVAR_018365291G → R in AH3. 1 PublicationCorresponds to variant rs201552310dbSNPEnsembl.1
    Natural variantiVAR_001293291G → S in AH3; salt wasting form; less then 1% activity. 6 PublicationsCorresponds to variant rs201552310dbSNPEnsembl.1
    Natural variantiVAR_065676292G → D in AH3; salt wasting form; less then 1% activity. 1 Publication1
    Natural variantiVAR_026069300L → F in AH3; salt wasting form. 1 PublicationCorresponds to variant rs765001985dbSNPEnsembl.1
    Natural variantiVAR_018366301S → Y in AH3. 1 Publication1
    Natural variantiVAR_075377302W → R in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 Publication1
    Natural variantiVAR_026070304V → M in hyperandrogenism; due to 21-hydroxylase deficiency; non-classic type; residual activity of 46% for conversion of 17-hydroxyprogesterone and 26% for conversion of progesterone compared with the normal enzyme. 1 PublicationCorresponds to variant rs151344505dbSNPEnsembl.1
    Natural variantiVAR_026071317L → M in AH3. 1 Publication1
    Natural variantiVAR_065677320E → K in AH3; simple virilizing form; 4% activity. 1 Publication1
    Natural variantiVAR_001294339R → H in AH3; non-classic form; 50% activity. 1 PublicationCorresponds to variant rs72552754dbSNPEnsembl.1
    Natural variantiVAR_018367341R → P in AH3; simple virilizing form. 3 Publications1
    Natural variantiVAR_001295341R → W in AH3; non-classic form; mild. Corresponds to variant rs777860817dbSNPEnsembl.1
    Natural variantiVAR_026072354R → C in AH3; salt wasting form. 1 PublicationCorresponds to variant rs772900496dbSNPEnsembl.1
    Natural variantiVAR_026073354R → H in AH3; salt wasting form. 2 PublicationsCorresponds to variant rs760216630dbSNPEnsembl.1
    Natural variantiVAR_001296356R → P in AH3; salt wasting form; 0.15% activity. 1 Publication1
    Natural variantiVAR_001297356R → Q in AH3; simple virilizing form; mild; 0.65% activity. 3 PublicationsCorresponds to variant rs574370139dbSNPEnsembl.1
    Natural variantiVAR_001298356R → W in AH3; salt wasting form. 21 Publications