Variant position: 631 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 PQYNPGDKDTKIAKRMAVLI FTDFICMAPISFYALSAILNK
Mouse PQYNPRDKDTKIAKRMAVLI FTDFMCMAPISFYALSALMNK
Rat PQYNPRDKDTKIAKRMAVLI FTDFMCMAPISFYALSALMNK
Pig PQYNPGDKDTKIAKRMAVLI FTDFMCMAPISFYALSALMNK
Bovine PHYNPGDKDTRIAKRMAVLI FTDFMCMAPISFYALSALMNK
Sheep PHYNPGDKDTRIAKRMAVLI FTDFMCMAPISFYALSALMNK
Cat PQYNTGDKDTKIAKRMAVLI FTDFMCMAPISFYALSALMNK
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.
Novel mutations of thyrotropin receptor gene in thyroid hyperfunctioning adenomas. Rapid identification by fine needle aspiration biopsy.
Porcellini A.; Ciullo I.; Laviola L.; Amabile G.; Fenzi G.; Avvedimento V.E.;
J. Clin. Endocrinol. Metab. 79:657-661(1994)
Cited for: VARIANTS HYPERTHYROIDISM CYS-631; ILE-632; GLU-633 AND TYR-633;
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.