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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13285: Variant p.Leu437Gln

Steroidogenic factor 1
Gene: NR5A1
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Variant information Variant position: help 437 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 Leucine (L) to Glutamine (Q) at position 437 (L437Q, p.Leu437Gln). 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 medium size and hydrophobic (L) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 SRXY3; without adrenal failure. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 437 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 QQLLLCLVEVRALSMQAKEY L YHKHLGNEMPRNNLLIEMLQ 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                         QQLLLCLVEVRALSMQAKEYLYHKHLGNEMPRNNLLIEMLQ

Mouse                         QQLLLCLVEVRALSMQAKEYLYHKHLGNEMPRNNLLIEMLQ

Rat                           QQLLLCLVEVRALSMQAKEYLYHKHLGNEMPRNNLLIEMLQ

Pig                           QQLLLCLVEVRALSMQAKEYLYHKHLGNEMPRNNLLIEMLQ

Bovine                        QQLLLCLVEVRALSMQAKEYLYHKHLGNEMPRNNLLIEMLQ

Horse                         QQLLLCLVEVRALSMQAKEYLYHKHLGNEMPRNNLLIEMLQ

Baker's yeast                 KE-------------------HKKKLENLENKINNLSK---
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
Domain 222 – 459 NR LBD
Region 230 – 461 Important for dimerization
Binding site 436 – 436
Binding site 436 – 436
Binding site 440 – 440
Binding site 440 – 440
Mutagenesis 433 – 433 A -> F. Strongly reduced transactivation.
Mutagenesis 436 – 436 Y -> F. Loss of transactivation; when associated with A-440.
Mutagenesis 440 – 440 K -> A. Loss of transactivation; when associated with F-436.
Helix 415 – 442



Literature citations
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
Lin L.; Philibert P.; Ferraz-de-Souza B.; Kelberman D.; Homfray T.; Albanese A.; Molini V.; Sebire N.J.; Einaudi S.; Conway G.S.; Hughes I.A.; Jameson J.L.; Sultan C.; Dattani M.T.; Achermann J.C.;
J. Clin. Endocrinol. Metab. 92:991-999(2007)
Cited for: VARIANTS SRXY3 MET-15; ILE-78; SER-91 AND GLN-437;
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.