Variant position: 463 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 764 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 HYKLNVPRFLMCNLAFADFC MGMYLLLIASVDLYTHSEYYN
Mouse HYKLTVPRFLMCNLAFADFC MGVYLLLIASVDLYTHSEYYN
Rat HYKLTVPRFLMCNLAFADFC MGVYLLLIASVDLYTHTEYYN
Pig HYKLTVPRFLMCNLAFADFC MGMYLLLIASVDLYTQSEYYN
Bovine HYKLTVPRFLMCNLAFADFC MGLYLLLIASVDLYTQSEYYN
Sheep HYKLTVPRFLMCNLAFADFC MGLYLLLIASVDLYTQSEYYN
Cat HYKLTVPRFLMCNLAFADFC MGMYLLLIASVDLYTHSEYYN
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
21 – 764 Thyrotropin receptor
451 – 473 Helical; Name=2
254 – 764 Missing. In isoform Short.
275 – 764 Missing. In isoform 3.
Novel TSHR germline mutation (Met463Val) masquerading as Graves' disease in a large Welsh kindred with hyperthyroidism.
Fuhrer D.; Warner J.; Sequeira M.; Paschke R.; Gregory J.W.; Ludgate M.;
Cited for: VARIANT HTNA VAL-463;
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