Variant position: 630 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 NPQYNPGDKDTKIAKRMAVL IFTDFICMAPISFYALSAILN
Mouse NPQYNPRDKDTKIAKRMAVL IFTDFMCMAPISFYALSALMN
Rat NPQYNPRDKDTKIAKRMAVL IFTDFMCMAPISFYALSALMN
Pig NPQYNPGDKDTKIAKRMAVL IFTDFMCMAPISFYALSALMN
Bovine NPHYNPGDKDTRIAKRMAVL IFTDFMCMAPISFYALSALMN
Sheep NPHYNPGDKDTRIAKRMAVL IFTDFMCMAPISFYALSALMN
Cat NPQYNTGDKDTKIAKRMAVL IFTDFMCMAPISFYALSALMN
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
626 – 649 Helical; Name=6
254 – 764 Missing. In isoform Short.
275 – 764 Missing. In isoform 3.
Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic thyroid adenomas.
Parma J.; Duprez L.; van Sande J.; Hermans J.; Rocmans P.; van Vliet G.; Costagliola S.; Rodien P.; Dumont J.E.; Vassart G.;
J. Clin. Endocrinol. Metab. 82:2695-2701(1997)
Cited for: VARIANTS HYPERTHYROIDISM ASN-281; THR-281; THR-453; PHE-486; MET-486; THR-568; GLY-619; ILE-623; PHE-629; LEU-630; LEU-631; ILE-632; ALA-633; GLU-633; HIS-633; TYR-633 AND 658-ASN--ILE-661 DEL;
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.