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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)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei233 – 2331Substrate1 Publication
    Metal bindingi428 – 4281Iron (heme axial ligand)1 Publication

    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

    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.
    BRENDAi1.14.99.10. 2681.
    ReactomeiR-HSA-193993. Mineralocorticoid biosynthesis.
    R-HSA-194002. Glucocorticoid biosynthesis.
    R-HSA-211976. Endogenous sterols.
    R-HSA-5579021. Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3).

    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)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti15 – 151A → T in AH3; salt wasting form; no significant difference in activity compared with the wild-type. 2 Publications
    Corresponds to variant rs63749090 [ dbSNP | Ensembl ].
    VAR_026059
    Natural varianti30 – 301P → L in AH3; non-classic form; 50% activity; 10% of non-classic AH3 Texan patients. 17 Publications
    VAR_001281
    Natural varianti30 – 301P → Q in AH3; does not affect membrane binding; enzyme function abolished. 1 Publication
    VAR_026060
    Natural varianti56 – 561G → R in AH3; loss of activity. 1 Publication
    VAR_065668
    Natural varianti62 – 621H → 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 Publications
    VAR_018364
    Natural varianti64 – 641G → E in AH3; no activity. 1 Publication
    VAR_007923
    Natural varianti77 – 771I → T in AH3; simple virilizing form. 1 Publication
    VAR_065669
    Natural varianti90 – 901G → V in AH3. 1 Publication
    VAR_026061
    Natural varianti105 – 1051P → L in AH3. 2 Publications
    VAR_001284
    Natural varianti107 – 1071L → R in AH3; loss of activity. 1 Publication
    VAR_065670
    Natural varianti121 – 1211K → Q in AH3; non-classic form; reduced activity; decreased affinity for 17-hydroxyprogesterone and progesterone. 1 Publication
    VAR_065671
    Natural varianti124 – 1241R → H in AH3. 1 Publication
    Corresponds to variant rs72552750 [ dbSNP | Ensembl ].
    VAR_026062
    Natural varianti142 – 1421L → P in AH3; loss of activity. 1 Publication
    VAR_065672
    Natural varianti167 – 1671L → P in AH3; salt wasting form; loss of activity. 1 Publication
    VAR_065673
    Natural varianti169 – 1691C → R in AH3; exhibits low hydroxylase activity toward 17-hydroxyprogesterone and progesterone. 1 Publication
    VAR_075372
    Natural varianti169 – 1691C → Y in AH3. 1 Publication
    VAR_001285
    Natural varianti172 – 1721I → N in AH3; simple virilizing form; 1-4% activity. 26 Publications
    VAR_001286
    Natural varianti178 – 1781G → A in AH3. 1 Publication
    Corresponds to variant rs72552751 [ dbSNP | Ensembl ].
    VAR_026063
    Natural varianti178 – 1781G → R in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 Publication
    VAR_075373
    Natural varianti191 – 1911Y → H in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 Publication
    VAR_075374
    Natural varianti196 – 1961Missing in AH3; moderate. 1 Publication
    VAR_008688
    Natural varianti198 – 1981L → F in AH3. 1 Publication
    VAR_075375
    Natural varianti211 – 2111V → L in AH3; non-classic form; pathogenicity uncertain. 1 Publication
    VAR_026064
    Natural varianti230 – 2301I → T in AH3. 1 Publication
    VAR_065674
    Natural varianti233 – 2331R → K in AH3. 1 Publication
    VAR_065675
    Natural varianti236 – 2361I → N in AH3; salt wasting form. 5 Publications
    VAR_001288
    Natural varianti237 – 2371V → E in AH3; salt wasting form. 3 Publications
    Corresponds to variant rs12530380 [ dbSNP | Ensembl ].
    VAR_001289
    Natural varianti239 – 2391M → K in AH3; salt wasting form. 3 Publications
    Corresponds to variant rs6476 [ dbSNP | Ensembl ].
    VAR_001290
    Natural varianti261 – 2611L → P in AH3. 1 Publication
    VAR_026065
    Natural varianti281 – 2811V → G in AH3; salt wasting form. 1 Publication
    VAR_026066
    Natural varianti281 – 2811V → L in AH3; non-classic form; 50% activity; most common variant; normal KM but 20% reduced Vmax. 23 Publications
    Corresponds to variant rs6471 [ dbSNP | Ensembl ].
    VAR_001292
    Natural varianti282 – 2821H → N in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 Publication
    VAR_075376
    Natural varianti283 – 2831M → L in AH3. 1 Publication
    VAR_026067
    Natural varianti291 – 2911G → C in AH3. 1 Publication
    VAR_026068
    Natural varianti291 – 2911G → R in AH3. 1 Publication
    VAR_018365
    Natural varianti291 – 2911G → S in AH3; salt wasting form; less then 1% activity. 6 Publications
    VAR_001293
    Natural varianti292 – 2921G → D in AH3; salt wasting form; less then 1% activity. 1 Publication
    VAR_065676
    Natural varianti300 – 3001L → F in AH3; salt wasting form. 1 Publication
    VAR_026069
    Natural varianti301 – 3011S → Y in AH3. 1 Publication
    VAR_018366
    Natural varianti302 – 3021W → R in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 Publication
    VAR_075377
    Natural varianti317 – 3171L → M in AH3. 1 Publication
    VAR_026071
    Natural varianti320 – 3201E → K in AH3; simple virilizing form; 4% activity. 1 Publication
    VAR_065677
    Natural varianti339 – 3391R → H in AH3; non-classic form; 50% activity. 1 Publication
    VAR_001294
    Natural varianti341 – 3411R → P in AH3; simple virilizing form. 3 Publications
    VAR_018367
    Natural varianti341 – 3411R → W in AH3; non-classic form; mild.
    VAR_001295
    Natural varianti354 – 3541R → C in AH3; salt wasting form. 1 Publication
    VAR_026072
    Natural varianti354 – 3541R → H in AH3; salt wasting form. 2 Publications
    VAR_026073
    Natural varianti356 – 3561R → P in AH3; salt wasting form; 0.15% activity. 1 Publication
    VAR_001296
    Natural varianti356 – 3561R → Q in AH3; simple virilizing form; mild; 0.65% activity. 3 Publications
    VAR_001297
    Natural varianti356 – 3561R → W in AH3; salt wasting form. 21 Publications
    VAR_001298
    Natural varianti362 – 3621A → V in AH3; no activity. 1 Publication
    VAR_007924
    Natural varianti363 – 3631L → W in AH3. 1 Publication
    VAR_026074
    Natural varianti365 – 3651H → Y in AH3. 1 Publication
    VAR_026075
    Natural varianti369 – 3691R → W in AH3. 1 Publication
    VAR_065678
    Natural varianti380 – 3801E → D in AH3; salt wasting form. 1 Publication
    VAR_001299
    Natural varianti408 – 4081R → C in AH3; very low residual activity. 3 Publications
    VAR_026077
    Natural varianti424 – 4241G → S in AH3; very low activity. 4 Publications
    VAR_026078
    Natural varianti426 – 4261R → C in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 Publication
    VAR_075378
    Natural varianti426 – 4261R → H in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone. 2 Publications
    VAR_026079
    Natural varianti435 – 4351R → C in AH3. 1 Publication
    VAR_026080
    Natural varianti453 – 4531P → 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 Publications
    Corresponds to variant rs6445 [ dbSNP | Ensembl ].
    VAR_001300
    Natural varianti479 – 4791R → L in AH3. 1 Publication
    VAR_026081
    Natural varianti482 – 4821P → S in AH3; reduced enzyme activity to 70% of normal. 1 Publication
    VAR_026082
    Natural varianti483 – 4831R → P in AH3; moderate; 1-2% of activity. 7 Publications
    VAR_001301
    Natural varianti483 – 4831R → Q in AH3. 1 Publication
    VAR_018368
    Natural varianti483 – 4831R → W in AH3; salt wasting form. 1 Publication
    VAR_026083

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi268 – 2681S → C, M or T: No loss of function. 1 Publication
    Mutagenesisi281 – 2811V → I: Normal KM but 50% reduced Vmax.
    Mutagenesisi281 – 2811V → T: Normal KM but 10% reduced Vmax.
    Mutagenesisi428 – 4281C → M, S or T: Loss of activity and loss of P450 absorption. 1 Publication

    Keywords - Diseasei

    Congenital adrenal hyperplasia, Disease mutation

    Organism-specific databases

    MalaCardsiCYP21A2.
    MIMi201910. phenotype.
    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

    ChEMBLiCHEMBL2759.
    DrugBankiDB01026. Ketoconazole.

    Polymorphism and mutation databases

    BioMutaiCYP21A2.
    DMDMi117275.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 494494Steroid 21-hydroxylasePRO_0000051976Add
    BLAST

    Proteomic databases

    PaxDbiP08686.
    PRIDEiP08686.

    PTM databases

    PhosphoSiteiP08686.

    Expressioni

    Gene expression databases

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

    Organism-specific databases

    HPAiHPA048979.
    HPA053371.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000408860.

    Chemistry

    BindingDBiP08686.

    Structurei

    Secondary structure

    1
    494
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi38 – 403Combined sources
    Helixi44 – 507Combined sources
    Helixi52 – 554Combined sources
    Beta strandi57 – 637Combined sources
    Beta strandi66 – 716Combined sources
    Helixi74 – 818Combined sources
    Turni82 – 843Combined sources
    Helixi85 – 884Combined sources
    Helixi95 – 995Combined sources
    Helixi114 – 12815Combined sources
    Turni129 – 1346Combined sources
    Helixi135 – 15016Combined sources
    Helixi160 – 17718Combined sources
    Helixi179 – 1824Combined sources
    Turni183 – 1853Combined sources
    Helixi187 – 20115Combined sources
    Helixi204 – 2118Combined sources
    Helixi213 – 2164Combined sources
    Helixi223 – 24523Combined sources
    Helixi256 – 2616Combined sources
    Helixi278 – 30932Combined sources
    Helixi311 – 32414Combined sources
    Turni336 – 3383Combined sources
    Helixi343 – 35513Combined sources
    Beta strandi369 – 3735Combined sources
    Beta strandi376 – 3783Combined sources
    Beta strandi383 – 3864Combined sources
    Helixi388 – 3925Combined sources
    Turni395 – 3973Combined sources
    Beta strandi398 – 4003Combined sources
    Helixi406 – 4094Combined sources
    Helixi431 – 44616Combined sources
    Beta strandi449 – 4579Combined sources
    Beta strandi478 – 4825Combined sources

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2GEGmodel-C27-494[»]
    4Y8WX-ray2.64A/B/C29-494[»]
    ProteinModelPortaliP08686.
    SMRiP08686. Positions 29-484.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni342 – 35817Steroid-bindingBy similarityAdd
    BLAST

    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.
    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)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti155 – 1551G → D in BAB70774 (PubMed:14702039).Curated
    Sequence conflicti242 – 2421R → G in BAB70774 (PubMed:14702039).Curated
    Sequence conflicti277 – 2771L → Q in BAB70774 (PubMed:14702039).Curated
    Sequence conflicti304 – 3041V → A in BAB70774 (PubMed:14702039).Curated
    Sequence conflicti311 – 3111P → L in AAA59985 (PubMed:3497399).Curated
    Sequence conflicti346 – 3461N → I in AAA59985 (PubMed:3497399).Curated
    Sequence conflicti426 – 4261R → P in AAB59440 (PubMed:3486422).Curated
    Sequence conflicti437 – 4371E → D in AAB59440 (PubMed:3486422).Curated

    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)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti9 – 91L → LL in allele CYP21A2*2. 4 Publications
    VAR_018363
    Natural varianti15 – 151A → T in AH3; salt wasting form; no significant difference in activity compared with the wild-type. 2 Publications
    Corresponds to variant rs63749090 [ dbSNP | Ensembl ].
    VAR_026059
    Natural varianti30 – 301P → L in AH3; non-classic form; 50% activity; 10% of non-classic AH3 Texan patients. 17 Publications
    VAR_001281
    Natural varianti30 – 301P → Q in AH3; does not affect membrane binding; enzyme function abolished. 1 Publication
    VAR_026060
    Natural varianti56 – 561G → R in AH3; loss of activity. 1 Publication
    VAR_065668
    Natural varianti62 – 621H → 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 Publications
    VAR_018364
    Natural varianti64 – 641G → E in AH3; no activity. 1 Publication
    VAR_007923
    Natural varianti77 – 771I → T in AH3; simple virilizing form. 1 Publication
    VAR_065669
    Natural varianti90 – 901G → V in AH3. 1 Publication
    VAR_026061
    Natural varianti98 – 981K → R.
    VAR_001282
    Natural varianti102 – 1021K → R in allele CYP21A2*3. 3 Publications
    VAR_001283
    Natural varianti105 – 1051P → L in AH3. 2 Publications
    VAR_001284
    Natural varianti107 – 1071L → R in AH3; loss of activity. 1 Publication
    VAR_065670
    Natural varianti121 – 1211K → Q in AH3; non-classic form; reduced activity; decreased affinity for 17-hydroxyprogesterone and progesterone. 1 Publication
    VAR_065671
    Natural varianti124 – 1241R → H in AH3. 1 Publication
    Corresponds to variant rs72552750 [ dbSNP | Ensembl ].
    VAR_026062
    Natural varianti142 – 1421L → P in AH3; loss of activity. 1 Publication
    VAR_065672
    Natural varianti167 – 1671L → P in AH3; salt wasting form; loss of activity. 1 Publication
    VAR_065673
    Natural varianti169 – 1691C → R in AH3; exhibits low hydroxylase activity toward 17-hydroxyprogesterone and progesterone. 1 Publication
    VAR_075372
    Natural varianti169 – 1691C → Y in AH3. 1 Publication
    VAR_001285
    Natural varianti172 – 1721I → N in AH3; simple virilizing form; 1-4% activity. 26 Publications
    VAR_001286
    Natural varianti178 – 1781G → A in AH3. 1 Publication
    Corresponds to variant rs72552751 [ dbSNP | Ensembl ].
    VAR_026063
    Natural varianti178 – 1781G → R in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 Publication
    VAR_075373
    Natural varianti183 – 1831D → E in allele CYP21A2*4.
    Corresponds to variant rs1040310 [ dbSNP | Ensembl ].
    VAR_001287
    Natural varianti191 – 1911Y → H in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 Publication
    VAR_075374
    Natural varianti196 – 1961Missing in AH3; moderate. 1 Publication
    VAR_008688
    Natural varianti198 – 1981L → F in AH3. 1 Publication
    VAR_075375
    Natural varianti211 – 2111V → L in AH3; non-classic form; pathogenicity uncertain. 1 Publication
    VAR_026064
    Natural varianti230 – 2301I → T in AH3. 1 Publication
    VAR_065674
    Natural varianti233 – 2331R → K in AH3. 1 Publication
    VAR_065675
    Natural varianti236 – 2361I → N in AH3; salt wasting form. 5 Publications
    VAR_001288
    Natural varianti237 – 2371V → E in AH3; salt wasting form. 3 Publications
    Corresponds to variant rs12530380 [ dbSNP | Ensembl ].
    VAR_001289
    Natural varianti239 – 2391M → K in AH3; salt wasting form. 3 Publications
    Corresponds to variant rs6476 [ dbSNP | Ensembl ].
    VAR_001290
    Natural varianti261 – 2611L → P in AH3. 1 Publication
    VAR_026065
    Natural varianti268 – 2681S → T in allele CYP21A2*5. 4 Publications
    Corresponds to variant rs6472 [ dbSNP | Ensembl ].
    VAR_001291
    Natural varianti281 – 2811V → G in AH3; salt wasting form. 1 Publication
    VAR_026066
    Natural varianti281 – 2811V → L in AH3; non-classic form; 50% activity; most common variant; normal KM but 20% reduced Vmax. 23 Publications
    Corresponds to variant rs6471 [ dbSNP | Ensembl ].
    VAR_001292
    Natural varianti282 – 2821H → N in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 Publication
    VAR_075376
    Natural varianti283 – 2831M → L in AH3. 1 Publication
    VAR_026067
    Natural varianti291 – 2911G → C in AH3. 1 Publication
    VAR_026068
    Natural varianti291 – 2911G → R in AH3. 1 Publication
    VAR_018365
    Natural varianti291 – 2911G → S in AH3; salt wasting form; less then 1% activity. 6 Publications
    VAR_001293
    Natural varianti292 – 2921G → D in AH3; salt wasting form; less then 1% activity. 1 Publication
    VAR_065676
    Natural varianti300 – 3001L → F in AH3; salt wasting form. 1 Publication
    VAR_026069
    Natural varianti301 – 3011S → Y in AH3. 1 Publication
    VAR_018366
    Natural varianti302 – 3021W → R in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 Publication
    VAR_075377
    Natural varianti304 – 3041V → 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 Publication
    VAR_026070
    Natural varianti317 – 3171L → M in AH3. 1 Publication
    VAR_026071
    Natural varianti320 – 3201E → K in AH3; simple virilizing form; 4% activity. 1 Publication
    VAR_065677
    Natural varianti339 – 3391R → H in AH3; non-classic form; 50% activity. 1 Publication
    VAR_001294
    Natural varianti341 – 3411R → P in AH3; simple virilizing form. 3 Publications
    VAR_018367
    Natural varianti341 – 3411R → W in AH3; non-classic form; mild.
    VAR_001295
    Natural varianti354 – 3541R → C in AH3; salt wasting form. 1 Publication
    VAR_026072
    Natural varianti354 – 3541R → H in AH3; salt wasting form. 2 Publications
    VAR_026073
    Natural varianti356 – 3561R → P in AH3; salt wasting form; 0.15% activity. 1 Publication
    VAR_001296
    Natural varianti356 – 3561R → Q in AH3; simple virilizing form; mild; 0.65% activity. 3 Publications
    VAR_001297
    Natural varianti356 – 3561R → W in AH3; salt wasting form. 21 Publications
    VAR_001298