Variant position: 575 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 KE------VGETLLYYGCRRSDEDYL YREELAQFHR--DGALTQLNVAF
Mouse KE------VGETLLYYGCRRSDEDYL YREELARFHK--DGA
Rat KE------VGETLLYYGCRRSDEDYL YREELARFHK--DGA
Pig KE------VGETLLYYGCRRSDEDYL YREELAQFHA--KGA
Bovine KE------VGETLLYYGCRRSDEDYL YREELAGFHK--DGA
Rabbit KE------VGETLLYYGCRRAAEDYL YREELAGFQK--DGT
Drosophila KT------VGESILYFGCRKRSEDYI YESELEEWVK--KGT
Slime mold QQ--------QSLLFFGCRSDTVDYI YREELEQYHQ--SSV
Baker's yeast KKGGNNVSLGKHILFYGSRNTD-DFL YQDEWPEYAKKLDGS
Fission yeast VK------VAKTLLFYGCQYSDKDFL YKEEWQQYKDVLKDS
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
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.
Fukami M.; Horikawa R.; Nagai T.; Tanaka T.; Naiki Y.; Sato N.; Okuyama T.; Nakai H.; Soneda S.; Tachibana K.; Matsuo N.; Sato S.; Homma K.; Nishimura G.; Hasegawa T.; Ogata T.;
J. Clin. Endocrinol. Metab. 90:414-426(2005)
Cited for: VARIANTS ABS1 HIS-454; CYS-575 AND 608-LEU--TRP-617 DELINS ARG; VARIANT VAL-500;
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