Variant position: 572 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 AVRNPELMATNKDTKIAKKM AILIFTDFTCMAPISFFAISA
Mouse AVQNPELTAPNKDTKIAKKM AILIFTDFTCMAPISFFAISA
Rat AVQNPELTAPNKDTKIAKKM AILIFTDFTCMAPISFFAISA
Pig AVQNPELMATNKDTKIAKKM AVLIFTDFTCMAPISFFAISA
Bovine AVQNPELMATNKDTKIAKKM AVLIFTDFTCMAPISFFAISA
Chicken AVQNPELVAANKDTKIAKRM AILIFTDFTCMAPISFFAISA
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
A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty.
Yano K.; Saji M.; Hidaka A.; Moriya N.; Okuno A.; Kohn L.D.; Cutler G.B. Jr.;
J. Clin. Endocrinol. Metab. 80:1162-1168(1995)
Cited for: VARIANT FMPP VAL-572;
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