Variant position: 566 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 677 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 ERAWLRQQGKE------VGETLLYYG CRRSDEDYLYREELAQFHR--DG
Mouse ERAWLREQGKE------VGETLLYYG CRRSDEDYLYREELA
Rat ERAWLREQGKE------VGETLLYYG CRRSDEDYLYREELA
Pig ERAWLQEQGKE------VGETLLYYG CRRSDEDYLYREELA
Bovine ERAWLRQQGKE------VGETLLYYG CRRSDEDYLYREELA
Rabbit ERAWLRQQGKE------VGETLLYYG CRRAAEDYLYREELA
Drosophila ERQFLRDEGKT------VGESILYFG CRKRSEDYIYESELE
Slime mold ELQHRNHSQQQ--------QSLLFFG CRSDTVDYIYREELE
Baker's yeast ERVAFLESQKKGGNNVSLGKHILFYG SRNTD-DFLYQDEWP
Fission yeast ERANLASKGVK------VAKTLLFYG CQYSDKDFLYKEEWQ
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
2 – 677 NADPH--cytochrome P450 reductase
43 – 677 Cytoplasmic
560 – 567
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.
Arlt W.; Walker E.A.; Draper N.; Ivison H.E.; Ride J.P.; Hammer F.; Chalder S.M.; Borucka-Mankiewicz M.; Hauffa B.P.; Malunowicz E.M.; Stewart P.M.; Shackleton C.H.L.;
Cited for: VARIANTS DISPORD ASP-178; PRO-284; HIS-454 AND TYR-566; CHARACTERIZATION OF VARIANTS DISPORD ASP-178; PRO-284; HIS-454 AND TYR-566;
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.
Flueck C.E.; Tajima T.; Pandey A.V.; Arlt W.; Okuhara K.; Verge C.F.; Jabs E.W.; Mendonca B.B.; Fujieda K.; Miller W.L.;
Nat. Genet. 36:228-230(2004)
Cited for: VARIANTS ABS1 PRO-284; HIS-454 AND GLU-489; VARIANTS DISPORD TYR-566 AND PHE-605; CHARACTERIZATION OF VARIANTS ABS1 PRO-284; HIS-454 AND GLU-489; CHARACTERIZATION OF VARIANTS DISPORD TYR-566 AND PHE-605;
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.