Variant position: 703 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 KAFQRDVFILLSKFGICKRQ AQAYRGQRVPPKNSTDIQVQK
Mouse KAFQRDVFILLSKFGICKRQ AQAYQGQRVCPNNSTGIQIQK
Rat KAFQRDVFILLSKFGLCKHQ AQAYQAQRVCPNNNTGIQIQK
Pig KAFQRDVFILLSKFGFCKRQ AQAYRGQRVSPKNSTGIQVQK
Bovine KAFQRDVFMLLSKFGICKRQ AQAYRGQRVSPKNSTGIRVQK
Sheep KAFQRDVFMLLSKFGICKRQ AQAYRGQRVSSKNSTGIRVQK
Cat KTFQRDVFILLSKFGICKRQ AQAYRGQRVSPKNSTGIQVQK
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
683 – 764 Cytoplasmic
254 – 764 Missing. In isoform Short.
275 – 764 Missing. In isoform 3.
Germline polymorphism of codon 727 of human thyroid-stimulating hormone receptor is associated with toxic multinodular goiter.
Gabriel E.M.; Bergert E.R.; Grant C.S.; van Heerden J.A.; Thompson G.B.; Morris J.C.;
J. Clin. Endocrinol. Metab. 84:3328-3335(1999)
Cited for: VARIANTS MET-606; GLY-703; GLU-720 AND GLU-727;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.