Variant position: 431 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 IMGYKFLRIVVWFVSLLALL GNVFVLLILLTSHYKLNVPRF
Mouse IMGYRFLRIVVWFVSLLALL GNIFVLLILLTSHYKLTVPRF
Rat IMGYKFLRIVVWFVSPMALL GNVFVLFVLLTSHYKLTVPRF
Pig IMGYRFLRIVVWFVSLLALL GNVFVLVILLTSHYKLTVPRF
Bovine IMGYKFLRIVVWFVSLLALL GNVFVLVILLTSHYKLTVPRF
Sheep IMGYKFLRIVVWFVSLLALL GNVFVLVILLTSHYKLTVPRF
Cat IMGYKFLRIVVWFVSLLALL GNVFVLIILLTSHYKLTVPRF
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
414 – 441 Helical; Name=1
254 – 764 Missing. In isoform Short.
275 – 764 Missing. In isoform 3.
Constitutively activating TSH-receptor mutations as a molecular cause of non-autoimmune hyperthyroidism in childhood.
Biebermann H.; Schoeneberg T.; Krude H.; Gudermann T.; Grueters A.;
Langenbecks Arch. Surg. 385:390-392(2000)
Cited for: VARIANTS HTNA ASN-281; SER-431 AND ILE-632;
The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism.
Biebermann H.; Schoeneberg T.; Hess C.; Germak J.; Gudermann T.; Grueters A.;
J. Clin. Endocrinol. Metab. 86:4429-4433(2001)
Cited for: VARIANT HTNA SER-431; CHARACTERIZATION OF VARIANT HTNA SER-431;
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