UniProtKB/SwissProt variant VAR

Variant information

Variant position:

129

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

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:

From Proline (P) to Leucine (L) at position 129 (P129L, p.Pro129Leu).

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:

Similar physico-chemical property. Both residues are medium size and hydrophobic.

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-3

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:

In SPGF8 and POF7; loss of activity.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs200749741 [ dbSNP | Ensembl ]

Sequence information

Variant position:

129

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:

KKAQIRANGFKLETGPPMGV P PPPPPAPDYVLPPSLHGPEP

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                         KKAQIRANGFKLETGPPMGVPPPPPPAPDYVLPPSLHGPEP

Mouse                         KKAQIRANGFKLETGPPMGVPPPPPPPPDYMLPPSLHAPEP

Rat                           KKAQIRANGFKLETGPPMGVPPPPPPPPDYMLPPSLHAPEP

Pig                           KKAQIRANGFKLETGPPMGVAPPPPPPPDYMLPPGLHAPEP

Bovine                        KKAQIRANGFKLETGPPVGVPPPPPPPPDYMLPHGLHASEP

Horse                         KKAQIRANGFKLETGPPMGVPPPPPPPPDYMLPPGLHVPEP

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
Chain	1 – 461	Steroidogenic factor 1
Region	119 – 157	Disordered
Compositional bias	124 – 143	Pro residues
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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13285: Variant p.Pro129Leu