Variant position: 623 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 KIYITVRNPQYNPGDKDTKI AKRMAVLIFTDFICMAPISFY
Mouse KIYITVRNPQYNPRDKDTKI AKRMAVLIFTDFMCMAPISFY
Rat KIYITVRNPQYNPRDKDTKI AKRMAVLIFTDFMCMAPISFY
Pig KIYITVRNPQYNPGDKDTKI AKRMAVLIFTDFMCMAPISFY
Bovine KIYITVRNPHYNPGDKDTRI AKRMAVLIFTDFMCMAPISFY
Sheep KIYITVRNPHYNPGDKDTRI AKRMAVLIFTDFMCMAPISFY
Cat KIYITVRNPQYNTGDKDTKI AKRMAVLIFTDFMCMAPISFY
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
603 – 625 Cytoplasmic
254 – 764 Missing. In isoform Short.
275 – 764 Missing. In isoform 3.
Identification and functional characterization of two new somatic mutations causing constitutive activation of the thyrotropin receptor in hyperfunctioning autonomous adenomas of the thyroid.
Paschke R.; Tonacchera M.; van Sande J.; Parma J.; Vassart G.;
J. Clin. Endocrinol. Metab. 79:1785-1789(1994)
Cited for: VARIANTS HYPERTHYROIDISM VAL-623 AND ILE-632;
Detection of thyroid-stimulating hormone receptor and G(s)alpha mutations: in 75 toxic thyroid nodules by denaturing gradient gel electrophoresis.
Truelzsch B.; Krohn K.; Wonerow P.; Chey S.; Holzapfel H.-P.; Ackermann F.; Fuehrer D.; Paschke R.;
J. Mol. Med. 78:684-691(2001)
Cited for: VARIANTS ASN-281; ILE-425; THR-453; PHE-486; ASN-505; ARG-512; GLN-512; THR-568; GLY-619; VAL-623; LEU-631; ALA-632; ILE-632; GLU-633; HIS-633; TYR-633; ALA-639 AND PHE-656; CHARACTERIZATION OF VARIANTS ILE-425 AND GLN-512;
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.