Variant position: 605 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 DGALTQLNVAFSR-EQSHKVY VQHLLKQDREHLWKLI-EGGAH
Mouse DGALTQLNVAFSR-EQAHKVY VQHLLKRDKEHLWKLIHEGG
Rat DGALTQLNVAFSR-EQAHKVY VQHLLKRDREHLWKLIHEGG
Pig KGALTRLSVAFSR-EQPQKVY VQHLLKRDKEHLWKLIHDGG
Bovine DGALTQLNVAFSR-EQPQKVY VQHLLKKDKEHLWKLIHEGG
Rabbit DGTLSQLNVAFSR-EQAQKVY VQHLLRRDKEHLWRLIHEGG
Drosophila KGTLN-LKAAFSR-DQGKKVY VQHLLEQDADLIWNVIGENK
Slime mold SSVLGDLVVAFSR-KTSQKVY VQNKLLEHKEKVWELL-NKG
Baker's yeast DGSFE-MVVAHSRLPNTKKVY VQDKLKDYEDQVFEMI-NNG
Fission yeast KDSFE-LITAFSR-EQDHKIY VQHRLLEHSDTIAKLV-EEG
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.
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.