Variant position: 670 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 NKPLITVSNSKILLVLFYPL NSCANPFLYAIFTKAFQRDVF
Mouse NKPLITVTNSKILLVLFYPL NSCANPFLYAIFTKAFQRDVF
Rat NKPLITVTNSGVLLVLFYPL NSCANPFLYAIFTKAFQRDVF
Pig NKPLITVTNSKILLVLFYPL NSCANPFLYAIFTKAFQRDVF
Bovine NKPLITVTNSKILLVLFYPL NSCANPFLYAIFTKAFQRDVF
Sheep NKPLITVTNSKILLVLFYPL NSCANPFLYAIFTKAFQRDVF
Cat NKPLITVTNSKILLVLFYPL NSCANPFLYAIFTKTFQRDVF
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
661 – 682 Helical; Name=7
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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