Variant position: 146 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 461 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 MGVPPPPPPAPDYVLPPSLH GPEPKGLAAGPPAGPLGDFGA
Mouse MGVPPPPPPPPDYMLPPSLH APEPKALVSGPPSGPLGDFGA
Rat MGVPPPPPPPPDYMLPPSLH APEPKALVSGPPSGPLGDFGA
Pig MGVAPPPPPPPDYMLPPGLH APEPKGLAAGPPTGPLGDFGA
Bovine VGVPPPPPPPPDYMLPHGLH ASEPKGLASGPPAGPLGDFGA
Horse MGVPPPPPPPPDYMLPPGLH VPEPKGLASGPPAGPLGDFGA
Baker's yeast ---------PVNLRIASRFY SD-----------GPLGGAG-
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
1 – 461 Steroidogenic factor 1
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.
Koehler B.; Lin L.; Ferraz-de-Souza B.; Wieacker P.; Heidemann P.; Schroeder V.; Biebermann H.; Schnabel D.; Grueters A.; Achermann J.C.;
Hum. Mutat. 29:59-64(2008)
Cited for: VARIANTS SRXY3 SER-33 AND HIS-84; VARIANT ALA-146; CHARACTERIZATION OF VARIANTS SRXY3 SER-33 AND HIS-84;
Mutations in NR5A1 associated with ovarian insufficiency.
Lourenco D.; Brauner R.; Lin L.; De Perdigo A.; Weryha G.; Muresan M.; Boudjenah R.; Guerra-Junior G.; Maciel-Guerra A.T.; Achermann J.C.; McElreavey K.; Bashamboo A.;
N. Engl. J. Med. 360:1200-1210(2009)
Cited for: VARIANTS POF7 ALA-123; LEU-129; 231-LEU--LEU-233 DEL AND ASN-293; VARIANT ALA-146; CHARACTERIZATION OF VARIANTS POF7 ALA-123; LEU-129 AND ASN-293;
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.