Variant position: 252 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 DVSQTSVTALPSKGLEHLKE LIARNTWTLKKLPLSLSFLHL
Mouse DVSSTSVTALPSKGLEHLKE LIAKDTWTLKKLPLSLSFLHL
Rat DVSSTSVTALPSKGLEHLKE LIAKNTWTLKKLPLSLSFLHL
Pig DVSYTSVTALPPKGLEHLKE LIARNTWTLKKLPLSLSFLHL
Bovine DISYTSVTALPSKGLEHLKE LIARNTWTLRKLPLSLSFLHL
Sheep DISYTSVTALPSKGLEHLKE LIARNTWTLKKLPLSLSFLHL
Cat DVSYTSVTALPSKGLEHLKE LIARNTWTLKKLPLTLSFLHL
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
21 – 413 Extracellular
250 – 271 LRR 7
232 – 274 DVSQTSVTALPSKGLEHLKELIARNTWTLKKLPLSLSFLHLTR -> VENVAVSGKGFCKSLFSWLYRLPLGRKSLSFETQKAPRSSMPS. In isoform 3.
232 – 253 DVSQTSVTALPSKGLEHLKELI -> LPLGRKSLSFETQKAPRSSMPS. In isoform Short.
250 – 253
Low prevalence of thyrotropin receptor mutations in a large series of subjects with sporadic and familial nonautoimmune subclinical hypothyroidism.
Tonacchera M.; Perri A.; De Marco G.; Agretti P.; Banco M.E.; Di Cosmo C.; Grasso L.; Vitti P.; Chiovato L.; Pinchera A.;
J. Clin. Endocrinol. Metab. 89:5787-5793(2004)
Cited for: VARIANTS CHNG1 ALA-162 AND PRO-252; CHARACTERIZATION OF VARIANT CHNG1 PRO-252;
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.