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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13285: Variant p.Gly123Ala

Steroidogenic factor 1
Gene: NR5A1
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Variant information Variant position: help 123 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Glycine (G) to Alanine (A) at position 123 (G123A, p.Gly123Ala). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from glycine (G) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In SPGF8 and POF7; activity levels similar to wild-type. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 123 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 461 The length of the canonical sequence.
Location on the sequence: help 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         RALKQQKKAQIRANGFKLETGPPMGVPPPPPPAPDYVLPPS

Mouse                         RALKQQKKAQIRANGFKLETGPPMGVPPPPPPPPDYMLPPS

Rat                           RALKQQKKAQIRANGFKLETGPPMGVPPPPPPPPDYMLPPS

Pig                           RALKQQKKAQIRANGFKLETGPPMGVAPPPPPPPDYMLPPG

Bovine                        RALKQQKKAQIRANGFKLETGPPVGVPPPPPPPPDYMLPHG

Horse                         RALKQQKKAQIRANGFKLETGPPMGVPPPPPPPPDYMLPPG

Baker's yeast                 --------------------------------PVNLRIASR
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
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.