Variant position: 284 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 GR--LKSYENQKP-------PFDAKNPFL AAVTTNRKLNQG-TERHLMHLE
Mouse GR--LKSYENQKP-------PFDAKNPFL AAVTTNRKLNQG
Rat GR--LKSYENQKP-------PFDAKNPFL AAVTANRKLNQG
Pig GR--LKSYENQKP-------PFDAKNPFL AVVTTNRKLNQG
Bovine GR--LKSYENQKP-------PFDAKNPFL AVVTTNRKLNQG
Rabbit GR--LKSYENQKP-------PFDAKNPFL ATVTTNRKLNQG
Drosophila AR--LHSIQNQRP-------PFDAKNPFL APIKVNRELHKG
Slime mold STPLKPKLSTDNKV------IYDMKNPYY AEVLENRELHSN
Baker's yeast SAHYLPSHQLNRNADGIQLGPFDLSQPYI APIVKSRELFSS
Fission yeast SRQQLKGNVASKA-------PRSQANPFF SSPVRSLELFKS
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.
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.