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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).3 Publications

Catalytic activityi

A C(21) steroid + [reduced NADPH--hemoprotein reductase] + O2 = a 21-hydroxy-C(21)-steroid + [oxidized NADPH--hemoprotein reductase] + H2O.4 Publications

Cofactori

heme1 Publication

Kineticsi

  1. KM=1.59 µM for 17-hydroxyprogesterone1 Publication
  2. KM=12.5 µM for for 17-hydroxyprogesterone (at 37 degrees Celsius)1 Publication
  3. KM=1.05 µM for progesterone1 Publication
  1. Vmax=5.8 nmol/min/mg enzyme1 Publication
  2. Vmax=0.5 nmol/min/mg enzyme (at 37 degrees Celsius)1 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

Keywordsi

Molecular functionMonooxygenase, Oxidoreductase
Biological processSteroidogenesis
LigandHeme, 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.

Chemistry databases

SwissLipidsiSLP:000001618.

Names & Taxonomyi

Protein namesi
Recommended name:
Steroid 21-hydroxylase (EC:1.14.14.164 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

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Involvement in diseasei

Adrenal hyperplasia 3 (AH3)54 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_07758212L → M in AH3; non-classic form; unknown pathological significance; no effect on steroid 21-monooxygenase activity. 1 Publication1
Natural variantiVAR_02605915A → T in AH3; salt wasting form; unknown patholgical significance; no significant difference in steroid 21-monooxygenase activity. 2 PublicationsCorresponds to variant dbSNP:rs63749090Ensembl.1
Natural variantiVAR_00128130P → L in AH3; non-classic form; 10% of non-classic AH3 Texan patients; 50% steroid 21-monooxygenase activity. 17 PublicationsCorresponds to variant dbSNP:rs9378251Ensembl.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 dbSNP:rs9378252Ensembl.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 dbSNP:rs550051210Ensembl.1
Natural variantiVAR_065670107L → R in AH3; loss of activity. 1 Publication1
Natural variantiVAR_077584113S → F in AH3; non-classic form; loss of steroid 21-monooxygenase 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 dbSNP:rs547552654Ensembl.1
Natural variantiVAR_026062124R → H in AH3. 1 PublicationCorresponds to variant dbSNP:rs72552750Ensembl.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 dbSNP:rs6475Ensembl.1
Natural variantiVAR_026063178G → A in AH3. 1 PublicationCorresponds to variant dbSNP:rs72552751Ensembl.1
Natural variantiVAR_075373178G → R in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 PublicationCorresponds to variant dbSNP:rs772317717Ensembl.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 dbSNP:rs143240527Ensembl.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 dbSNP:rs111647200Ensembl.1
Natural variantiVAR_001289237V → E in AH3; salt wasting form. 3 PublicationsCorresponds to variant dbSNP:rs12530380Ensembl.1
Natural variantiVAR_001290239M → K in AH3; salt wasting form. 3 PublicationsCorresponds to variant dbSNP:rs6476Ensembl.1
Natural variantiVAR_026065261L → P in AH3. 1 PublicationCorresponds to variant dbSNP:rs750337015Ensembl.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 dbSNP:rs6471Ensembl.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 dbSNP:rs201552310Ensembl.1
Natural variantiVAR_001293291G → S in AH3; salt wasting form; less then 1% activity. 6 PublicationsCorresponds to variant dbSNP:rs201552310Ensembl.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 dbSNP:rs765001985Ensembl.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 dbSNP:rs72552754Ensembl.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 dbSNP:rs777860817Ensembl.1
Natural variantiVAR_026072354R → C in AH3; salt wasting form. 1 PublicationCorresponds to variant dbSNP:rs772900496Ensembl.1
Natural variantiVAR_026073354R → H in AH3; salt wasting form. 2 PublicationsCorresponds to variant dbSNP:rs760216630Ensembl.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 dbSNP:rs574370139Ensembl.1
Natural variantiVAR_001298356R → W in AH3; salt wasting form. 21 PublicationsCorresponds to variant dbSNP:rs7769409Ensembl.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 dbSNP:rs781074931Ensembl.1
Natural variantiVAR_001299380E → D in AH3; salt wasting form. 1 PublicationCorresponds to variant dbSNP:rs72552756Ensembl.1
Natural variantiVAR_077587389 – 391Missing in AH3; salt wasting form; loss of steroid 21-monooxygenase activity. 1 Publication3
Natural variantiVAR_026077408R → C in AH3; very low residual activity. 3 PublicationsCorresponds to variant dbSNP:rs72552757Ensembl.1
Natural variantiVAR_026078424G → S in AH3; very low activity. 4 PublicationsCorresponds to variant dbSNP:rs72552758Ensembl.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 dbSNP:rs151344504Ensembl.1
Natural variantiVAR_026080435R → C in AH3. 1 PublicationCorresponds to variant dbSNP:rs767333157Ensembl.1
Natural variantiVAR_077589450T → P in AH3; salt wasting form; loss of steroid 21-monooxygenase activity. 1 Publication1
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 dbSNP:rs6445Ensembl.1
Natural variantiVAR_026081479R → L in AH3. 1 PublicationCorresponds to variant dbSNP:rs184649564Ensembl.1
Natural variantiVAR_026082482P → S in AH3; reduced enzyme activity to 70% of normal. 2 PublicationsCorresponds to variant dbSNP:rs776989258Ensembl.1
Natural variantiVAR_001301483R → P in AH3; moderate; 1-2% of activity. 7 PublicationsCorresponds to variant dbSNP:rs200005406Ensembl.1
Natural variantiVAR_018368483R → Q in AH3. 1 PublicationCorresponds to variant dbSNP:rs200005406Ensembl.1
Natural variantiVAR_026083483R → W in AH3; salt wasting form. 1 PublicationCorresponds to variant dbSNP:rs759736443Ensembl.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.1 Publication

Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Phylogenomic databases

eggNOGiKOG0156. Eukaryota.
COG2124. LUCA.
HOGENOMiHOG000036991.
HOVERGENiHBG106944.
InParanoidiP08686.
KOiK00513.
OrthoDBiEOG090B06MZ.
PhylomeDBiP08686.

Family and domain databases

Gene3Di1.10.630.10. 1 hit.
InterProiView protein in InterPro
IPR001128. Cyt_P450.
IPR017972. Cyt_P450_CS.
IPR002401. Cyt_P450_E_grp-I.
PfamiView protein in Pfam
PF00067. p450. 1 hit.
PRINTSiPR00463. EP450I.
PR00385. P450.
SUPFAMiSSF48264. SSF48264. 1 hit.
PROSITEiView protein in PROSITE
PS00086. CYTOCHROME_P450. 1 hit.

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_07758212L → M in AH3; non-classic form; unknown pathological significance; no effect on steroid 21-monooxygenase activity. 1 Publication1
Natural variantiVAR_02605915A → T in AH3; salt wasting form; unknown patholgical significance; no significant difference in steroid 21-monooxygenase activity. 2 PublicationsCorresponds to variant dbSNP:rs63749090Ensembl.1
Natural variantiVAR_07758316R → C Decreased steroid 21-monooxygenase activity. 1 Publication1
Natural variantiVAR_00128130P → L in AH3; non-classic form; 10% of non-classic AH3 Texan patients; 50% steroid 21-monooxygenase activity. 17 PublicationsCorresponds to variant dbSNP:rs9378251Ensembl.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 dbSNP:rs9378252Ensembl.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 dbSNP:rs6474Ensembl.1
Natural variantiVAR_001284105P → L in AH3. 2 PublicationsCorresponds to variant dbSNP:rs550051210Ensembl.1
Natural variantiVAR_065670107L → R in AH3; loss of activity. 1 Publication1
Natural variantiVAR_077584113S → F in AH3; non-classic form; loss of steroid 21-monooxygenase 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 dbSNP:rs547552654Ensembl.1
Natural variantiVAR_026062124R → H in AH3. 1 PublicationCorresponds to variant dbSNP:rs72552750Ensembl.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 dbSNP:rs6475Ensembl.1
Natural variantiVAR_026063178G → A in AH3. 1 PublicationCorresponds to variant dbSNP:rs72552751Ensembl.1
Natural variantiVAR_075373178G → R in AH3; exhibits low enzymatic activity toward 17-hydroxyprogesterone and progesterone. 1 PublicationCorresponds to variant dbSNP:rs772317717Ensembl.1
Natural variantiVAR_001287183D → E in allele CYP21A2*4. Corresponds to variant dbSNP:rs1040310Ensembl.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 dbSNP:rs143240527Ensembl.1
Natural variantiVAR_077585202S → G Decreased steroid 21-monooxygenase activity. 1 Publication1
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 dbSNP:rs111647200Ensembl.1
Natural variantiVAR_001289237V → E in AH3; salt wasting form. 3 PublicationsCorresponds to variant dbSNP:rs12530380Ensembl.1
Natural variantiVAR_001290239M → K in AH3; salt wasting form. 3 PublicationsCorresponds to variant dbSNP:rs6476Ensembl.1
Natural variantiVAR_026065261L → P in AH3. 1 PublicationCorresponds to variant dbSNP:rs750337015Ensembl.1
Natural variantiVAR_077586267P → L Decreased steroid 21-monooxygenase activity. 1 Publication1
Natural variantiVAR_001291268S → T in allele CYP21A2*5. 4 PublicationsCorresponds to variant dbSNP:rs6472Ensembl.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 dbSNP:rs6471Ensembl.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 dbSNP:rs201552310Ensembl.1
Natural variantiVAR_001293291G → S in AH3; salt wasting form; less then 1% activity. 6 PublicationsCorresponds to variant dbSNP:rs201552310Ensembl.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 dbSNP:rs765001985Ensembl.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 dbSNP:rs151344505Ensembl.1
Natural variantiVAR_026071317L → M in AH3. 1 Publication1