Variant position: 90 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 328 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 GKKLSRMKLLLKHLTLANLL ETLIVMPLDGMWNITVQWYAG
Mouse GKKLSRMKVLLKHLTLANLL ETLIVMPLDGMWNITVQWYAG
Rat GKKLSRMKVLLKHLTLANLL ETLIVMPLDGMWNITVQWYAG
Pig GKKLSRMKVLLKHLTLANLL ETLIVMPLDGMWNITVQWYAG
Bovine RKKLSRMKLLLKHLTLANLL ETLIVMPLDGMWNITVQWYAG
Sheep RKKLSKMKVLLKHLTLANLL ETLIVMPLDGMWNITVQWYAG
Horse GKKLSKMKVLLKHLTLANLL ETLIVMPLDGMWNITVQWYAG
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 – 328 Gonadotropin-releasing hormone receptor
78 – 97 Helical; Name=2
102 – 102 N-linked (GlcNAc...) asparagine
75 – 99
A novel homozygous mutation in the second transmembrane domain of the gonadotrophin releasing hormone receptor gene.
Soederlund D.; Canto P.; de la Chesnaye E.; Ulloa-Aguirre A.; Mendez J.P.;
Clin. Endocrinol. (Oxf.) 54:493-498(2001)
Cited for: VARIANT HH7 LYS-90;
Molecular basis of hypogonadotropic hypogonadism: restoration of mutant (E(90)K) GnRH receptor function by a deletion at a distant site.
Maya-Nunez G.; Janovick J.A.; Ulloa-Aguirre A.; Soederlund D.; Conn P.M.; Mendez J.P.;
J. Clin. Endocrinol. Metab. 87:2144-2149(2002)
Cited for: CHARACTERIZATION OF VARIANT HH7 LYS-90;
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