Variant position: 505 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 AIDWQTGPGCNTAGFFTVFA SELSVYTLTVITLERWYAITF
Mouse AIDWQTGPGCNTAGFFTVFA SELSVYTLTVITLERWYAITF
Rat AIDWQTGPGCNTAGFFTVFA SELSVYTLTVITLERWYAITF
Pig AIDWQTGPGCNTAGFFTVFA SELSVYTLTVITLERWYAITF
Bovine AIDWQTGPGCNTAGFFTVFA SELSVYTLTVITLERWHAITF
Sheep AIDWQTGPGCNTAGFFTVFA SELSVYTLTVITLERWYAITF
Cat AIDWQTGPGCNAAGFFTVFA SELSVYTLTVITLERWYAITF
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
495 – 517 Helical; Name=3
494 – 569
254 – 764 Missing. In isoform Short.
275 – 764 Missing. In isoform 3.
Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia.
Tonacchera M.; van Sande J.; Cetani F.; Swillens S.; Schvartz C.; Winiszewski P.; Portmann L.; Dumont J.E.; Vassart G.; Parma J.;
J. Clin. Endocrinol. Metab. 81:547-554(1996)
Cited for: VARIANTS HTNA ARG-505; TYR-650 AND SER-670;
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