Variant position: 477 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 AFADFCMGMYLLLIASVDLY THSEYYNHAIDWQTGPGCNTA
Mouse AFADFCMGVYLLLIASVDLY THSEYYNHAIDWQTGPGCNTA
Rat AFADFCMGVYLLLIASVDLY THTEYYNHAIDWQTGPGCNTA
Pig AFADFCMGMYLLLIASVDLY TQSEYYNHAIDWQTGPGCNTA
Bovine AFADFCMGLYLLLIASVDLY TQSEYYNHAIDWQTGPGCNTA
Sheep AFADFCMGLYLLLIASVDLY TQSEYYNHAIDWQTGPGCNTA
Cat AFADFCMGMYLLLIASVDLY THSEYYNHAIDWQTGPGCNAA
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
474 – 494 Extracellular
254 – 764 Missing. In isoform Short.
275 – 764 Missing. In isoform 3.
Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene.
Tonacchera M.; Agretti P.; Pinchera A.; Rosellini V.; Perri A.; Collecchi P.; Vitti P.; Chiovato L.;
J. Clin. Endocrinol. Metab. 85:1001-1008(2000)
Cited for: VARIANT CHNG1 ILE-477;
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