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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08686: Variant p.Arg427Cys

Steroid 21-hydroxylase
Gene: CYP21A2
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Variant information Variant position: help 427
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Cysteine (C) at position 427 (R427C, p.Arg427Cys).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (C)
BLOSUM score: help -3
Variant description: help In AH3; loss of enzymatic activity toward 17-hydroxyprogesterone and progesterone.
Other resources: help


Sequence information Variant position: help 427
Protein sequence length: help 495
Location on the sequence: help PDRFLEPGKNSRALAFGCGA R VCLGEPLARLELFVVLTRLL
Residue conservation: help 
Human                         PDRFLEPGKNSRALAFGCGARVCLGEPLARLELFVVLTRLL

                              PDRFLVPGASPRVLAFGCGARVCLGEPLARLELLVVLAQLL

Mouse                         PDRFLEPGKNPRTPSFGCGARVCLGEPLARLELFVVLARLL

Rat                           PDRFLESGKSPRIPTFGCGARVCLGEPLARLEFFVVLARLL

Pig                           PDRFLAPGANPSALAFGCGARVCLGEPLARLELFVVLVQLL

Bovine                        PDRFLEPGANPSALAFGCGARVCLGESLARLELFVVLLRLL

Cat                           PDRFLVPGASPRVLAFGCGARVCLGEPLARLELFVVLARLL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 495 Steroid 21-hydroxylase
Binding site 427 – 427
Binding site 429 – 429 axial binding residue
Mutagenesis 429 – 429 C -> MST. Loss of progesterone 21-hydroxylase activity and loss of P450 absorption.
Helix 425 – 427



Literature citations
Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis.
Grischuk Y.; Rubtsov P.; Riepe F.G.; Groetzinger J.; Beljelarskaia S.; Prassolov V.; Kalintchenko N.; Semitcheva T.; Peterkova V.; Tiulpakov A.; Sippell W.G.; Krone N.;
J. Clin. Endocrinol. Metab. 91:4976-4980(2006)
Cited for: VARIANTS AH3 ARG-170; ARG-179; ARG-303 AND CYS-427; CHARACTERIZATION OF VARIANTS AH3 ARG-170; ARG-179; ARG-303; CYS-427 AND HIS-427; FUNCTION; CATALYTIC ACTIVITY;
Disclaimer: 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.