Variant position: 36 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 PRDLGGMGCSSPPCECHQEE DFRVTCKDIQRIPSLPPSTQT
Mouse SRSLRGKECASPPCECHQED DFRVTCKELHRIPSLPPSTQT
Rat PRSLWGRGCTSPPCECHQED DFRVTCKELHQIPSLPPSTQT
Pig PRSLRGKGCPSPPCECHQED DFRVTCKDIHSIPPLPPNTQT
Bovine PSSLGGERCPSPPCECRQED DFRVTCKDIQSIPSLPPSTQT
Sheep PSSLWGERCPSPPCECRQED DFRVTCKDIQRIPSLPPSTQT
Cat PRSLGGKGCPSPPCECHQED DFRVTCKDIHRIPSLPPSTQT
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.
Association of Graves' disease with intragenic polymorphism of the thyrotropin receptor gene in a cohort of Singapore patients of multi-ethnic origins.
Ho S.-C.; Goh S.-S.; Khoo D.H.;
Cited for: ANALYSIS OF INVOLVEMENT OF VARIANTS HIS-36; THR-52 AND GLU-727 IN GRAVES DISEASE;
A somatic point mutation in a putative ligand binding domain of the TSH receptor in a patient with autoimmune hyperthyroidism.
Heldin N.-E.; Gustavsson B.; Westermark K.; Westermark B.;
J. Clin. Endocrinol. Metab. 73:1374-1376(1991)
Cited for: VARIANT HIS-36;
Functional analysis of a variant of the thyrotropin receptor gene in a family with Graves' disease.
Gustavsson B.; Eklof C.; Westermark K.; Westermark B.; Heldin N.-E.;
Mol. Cell. Endocrinol. 111:167-173(1995)
Cited for: CHARACTERIZATION OF VARIANT HIS-36;
Polymorphisms in thyroid hormone pathway genes are associated with plasma TSH and iodothyronine levels in healthy subjects.
Peeters R.P.; van Toor H.; Klootwijk W.; de Rijke Y.B.; Kuiper G.G.J.M.; Uitterlinden A.G.; Visser T.J.;
J. Clin. Endocrinol. Metab. 88:2880-2888(2003)
Cited for: VARIANTS HIS-36; THR-52 AND GLU-727; ASSOCIATION WITH PLASMA TSH LEVEL;
TSH receptor and Gs(alpha) genetic analysis in children with Down's syndrome and subclinical hypothyroidism.
Tonacchera M.; Perri A.; De Marco G.; Agretti P.; Montanelli L.; Banco M.E.; Corrias A.; Bellone J.; Tosi M.T.; Vitti P.; Martino E.; Pinchera A.; Chiovato L.;
J. Endocrinol. Invest. 26:997-1000(2003)
Cited for: VARIANTS HIS-36 AND THR-52; RECEPTOR GENETIC ANALYSIS IN CHILDREN WITH DOWN'S SYNDROME;
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