UniProtKB/SwissProt variant VAR

Variant information

Variant position:

92

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 Arginine (R) to Glutamine (Q) at position 92 (R92Q, p.Arg92Gln).

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:

Change from large size and basic (R) to medium size and polar (Q)

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

BLOSUM score:

1

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 SRXY3, SRXX4 and AINR; decreased transactivator activity; no effect on nuclear location.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs104894119 [ dbSNP | Ensembl ]

Sequence information

Variant position:

92

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:

KCLTVGMRLEAVRADRMRGG R NKFGPMYKRDRALKQQKKAQ

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                         KCLTVGMRLEAVRADRMRGGRNKFGPMYKRDRALKQQKKAQ

Mouse                         KCLTVGMRLEAVRADRMRGGRNKFGPMYKRDRALKQQKKAQ

Rat                           KCLTVGMRLEAVRADRMRGGRNKFGPMYKRDRALKQQKKAQ

Pig                           KCLTVGMRLEAVRADRMRGGRNKFGPMYKRDRALKQQKKAQ

Bovine                        KCLTVGMRLEAVRADRMRGGRNKFGPMYKRDRALKQQKKAQ

Horse                         KCLTVGMRLEAVRADRMRGGRNKFGPMYKRDRALKQQKKAQ

Baker's yeast                 RCISRNTRL--------------------------------

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
Modified residue	72 – 72	N6-acetyllysine

Literature citations

Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.
Achermann J.C.; Ozisik G.; Ito M.; Orun U.A.; Harmanci K.; Gurakan B.; Jameson J.L.;
J. Clin. Endocrinol. Metab. 87:1829-1833(2002)
Cited for: VARIANT SRXY3 GLN-92;

Rare causes of primary adrenal insufficiency: genetic and clinical characterization of a large nationwide cohort.
Guran T.; Buonocore F.; Saka N.; Ozbek M.N.; Aycan Z.; Bereket A.; Bas F.; Darcan S.; Bideci A.; Guven A.; Demir K.; Akinci A.; Buyukinan M.; Aydin B.K.; Turan S.; Agladioglu S.Y.; Atay Z.; Abali Z.Y.; Tarim O.; Catli G.; Yuksel B.; Akcay T.; Yildiz M.; Ozen S.; Doger E.; Demirbilek H.; Ucar A.; Isik E.; Ozhan B.; Bolu S.; Ozgen I.T.; Suntharalingham J.P.; Achermann J.C.;
J. Clin. Endocrinol. Metab. 101:284-292(2016)
Cited for: VARIANT AINR GLN-92;

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D.; Stoop H.; Peelman F.; Todeschini A.L.; Rosseel T.; Coppieters F.; Veitia R.A.; Looijenga L.H.; De Baere E.; Cools M.;
Genet. Med. 19:367-376(2017)
Cited for: VARIANT SRXX4 TRP-92; CHARACTERIZATION OF VARIANT SRXX4 TRP-92; INVOLVEMENT IN SRXX4; CHARACTERIZATION OF VARIANT SRXY3 GLN-92; SUBCELLULAR LOCATION;

A 46,XX ovotesticular disorder of sex development likely caused by a steroidogenic factor-1 (NR5A1) variant.
Swartz J.M.; Ciarlo R.; Guo M.H.; Abrha A.; Weaver B.; Diamond D.A.; Chan Y.M.; Hirschhorn J.N.;
Horm. Res. Paediatr. 87:191-195(2017)
Cited for: INVOLVEMENT IN SRXX4; VARIANT SRXX4 GLN-92;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13285: Variant p.Arg92Gln