Variant position: 131 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 AQIRANGFKLETGPPMGVPP PPPPAPDYVLPPSLHGPEPKG
Mouse AQIRANGFKLETGPPMGVPP PPPPPPDYMLPPSLHAPEPKA
Rat AQIRANGFKLETGPPMGVPP PPPPPPDYMLPPSLHAPEPKA
Pig AQIRANGFKLETGPPMGVAP PPPPPPDYMLPPGLHAPEPKG
Bovine AQIRANGFKLETGPPVGVPP PPPPPPDYMLPHGLHASEPKG
Horse AQIRANGFKLETGPPMGVPP PPPPPPDYMLPPGLHVPEPKG
Baker's yeast -------------------- ----PVNLRIASRFYSD----
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
119 – 157 Disordered
124 – 143 Pro residues
119 – 119 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
119 – 119 K -> R. Loss of sumoylation; when associated with R-194.
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;
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.