Sequence information
Variant position: 123 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:
RALKQQKKAQIRANGFKLET
G PPMGVPPPPPPAPDYVLPPS
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 RALKQQKKAQIRANGFKLETG PPMGVPPPPPPAPDYVLPPS
Mouse RALKQQKKAQIRANGFKLETG PPMGVPPPPPPPPDYMLPPS
Rat RALKQQKKAQIRANGFKLETG PPMGVPPPPPPPPDYMLPPS
Pig RALKQQKKAQIRANGFKLETG PPMGVAPPPPPPPDYMLPPG
Bovine RALKQQKKAQIRANGFKLETG PPVGVPPPPPPPPDYMLPHG
Horse RALKQQKKAQIRANGFKLETG PPMGVPPPPPPPPDYMLPPG
Baker's yeast --------------------- -----------PVNLRIASR
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
Chain
1 – 461
Steroidogenic factor 1
Region
119 – 157
Disordered
Cross
119 – 119
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
Mutagenesis
119 – 119
K -> R. Loss of sumoylation; when associated with R-194.
Literature citations
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;
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.
Bashamboo A.; Ferraz-de-Souza B.; Lourenco D.; Lin L.; Sebire N.J.; Montjean D.; Bignon-Topalovic J.; Mandelbaum J.; Siffroi J.P.; Christin-Maitre S.; Radhakrishna U.; Rouba H.; Ravel C.; Seeler J.; Achermann J.C.; McElreavey K.;
Am. J. Hum. Genet. 87:505-512(2010)
Cited for: VARIANTS SPGF8 ALA-123; LEU-129; LEU-131; CYS-191; SER-212 AND ASN-238; CHARACTERIZATION OF VARIANTS SPGF8 LEU-131; CYS-191; SER-212 AND ASN-238;
Disclaimer:
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.