Variant position: 502 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 HAILIMLGGWLFSSLIAMLP LVGVSNYMKVSICFPMDVETT
Mouse HAIPIMLGGWIFSTLMATLP LVGVSSYMKVSICLPMDVEST
Rat HAIPIMLGGWLFSTLIATMP LVGISNYMKVSICLPMDVEST
Pig HAIPIMLGGWLFSTLIAMLP LVGVSSYMKVSICLPMDVETT
Bovine HAIPVMLGGWLFSTLIAVLP LVGVSNYMKVSICLPMDVEST
Chicken HAVPIMLGGWVFSILIAVLP LLGVSSYMKVSICLPMDIETG
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
483 – 505 Helical; Name=4
439 – 514
A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in Leydig cell hypoplasia.
Leung M.Y.-K.; Al-Muslim O.; Wu S.-M.; Aziz A.; Inam S.; Awadh M.; Rennert O.M.; Chan W.-Y.;
Am. J. Med. Genet. A 130:146-153(2004)
Cited for: VARIANT LHR PRO-502; CHARACTERIZATION OF VARIANT LCH PRO-502;
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