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:
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 KCLTVGMRLEAVRADRMRGG RNKFGPMYKRDRALKQQKKAQ
Mouse KCLTVGMRLEAVRADRMRGG RNKFGPMYKRDRALKQQKKAQ
Rat KCLTVGMRLEAVRADRMRGG RNKFGPMYKRDRALKQQKKAQ
Pig KCLTVGMRLEAVRADRMRGG RNKFGPMYKRDRALKQQKKAQ
Bovine KCLTVGMRLEAVRADRMRGG RNKFGPMYKRDRALKQQKKAQ
Horse KCLTVGMRLEAVRADRMRGG RNKFGPMYKRDRALKQQKKAQ
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
1 – 461 Steroidogenic factor 1
72 – 72 N6-acetyllysine
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;
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