Variant position: 593 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 699 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 ILIFTDFTCMAPISFFAISA AFKVPLITVTNSKVLLVLFYP
Mouse ILIFTDFTCMAPISFFAISA AFKVPLITVTNSKVLLVLFYP
Rat ILIFTDFTCMAPISFFAISA AFKVPLITVTNSKILLVLFYP
Pig VLIFTDFTCMAPISFFAISA ALKVPLITVTNSKVLLVLFYP
Bovine VLIFTDFTCMAPISFFAISA AFKVPLITVTNSKVLLVLFYP
Chicken ILIFTDFTCMAPISFFAISA AIKVPLITVTNSKILLVLFYP
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
27 – 699 Lutropin-choriogonadotropic hormone receptor
571 – 594 Helical; Name=6
Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene.
Kremer H.; Kraaij R.; Toledo S.P.A.; Post M.; Fridman J.B.; Hayashida C.Y.; van Reen M.; Milgrom E.; Ropers H.-H.; Mariman E.; Themmen A.P.N.; Brunner H.G.;
Nat. Genet. 9:160-164(1995)
Cited for: VARIANT LHR PRO-593;
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