Variant position: 528 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 SVYTLTVITLERWYAITFAM RLDRKIRLRHACAIMVGGWVC
Mouse SVYTLTVITLERWYAITFAM RLDRKIRLRHAYTIMAGGWVS
Rat SVYTLTVITLERWYAITFAM RLDRKIRLRHAYTIMAGGWVS
Pig SVYTLTVITLERWYAITFAM RLDRKIRLRHAYAIMAGGWVC
Bovine SVYTLTVITLERWHAITFAM RLDRKIRLWHAYVIMLGGWVC
Sheep SVYTLTVITLERWYAITFAM HLDRKIRLWHAYVIMLGGWVC
Cat SVYTLTVITLERWYAITFAM RLDRKMRLRHAYAIMVGGWVC
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
518 – 537 Cytoplasmic
494 – 569
254 – 764 Missing. In isoform Short.
275 – 764 Missing. In isoform 3.
Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor.
Grueters A.; Schoeneberg T.; Biebermann H.; Krude H.; Krohn H.P.; Dralle H.; Gudermann T.;
J. Clin. Endocrinol. Metab. 83:1431-1436(1998)
Cited for: VARIANT HTNA ASN-281; VARIANT HIS-528;
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