Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P16473: Variant p.Cys672Tyr

Thyrotropin receptor
Gene: TSHR
Feedback?
Variant information Variant position: help 672 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Cysteine (C) to Tyrosine (Y) at position 672 (C672Y, p.Cys672Tyr). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (C) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help In HTNA; gain of function. Any additional useful information about the variant.


Sequence information Variant position: help 672 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 764 The length of the canonical sequence.
Location on the sequence: help PLITVSNSKILLVLFYPLNS C ANPFLYAIFTKAFQRDVFIL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         PLITVSNSKILLVLFYPLNSCANPFLYAIFTKAFQRDVFIL

                              PLITVTNSKILLVLFYPLNSCANPFLYAIFTKAFQRDVFIL

Mouse                         PLITVTNSKILLVLFYPLNSCANPFLYAIFTKAFQRDVFIL

Rat                           PLITVTNSGVLLVLFYPLNSCANPFLYAIFTKAFQRDVFIL

Pig                           PLITVTNSKILLVLFYPLNSCANPFLYAIFTKAFQRDVFIL

Bovine                        PLITVTNSKILLVLFYPLNSCANPFLYAIFTKAFQRDVFML

Sheep                         PLITVTNSKILLVLFYPLNSCANPFLYAIFTKAFQRDVFML

Cat                           PLITVTNSKILLVLFYPLNSCANPFLYAIFTKTFQRDVFIL

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 21 – 764 Thyrotropin receptor
Transmembrane 661 – 682 Helical; Name=7
Alternative sequence 254 – 764 Missing. In isoform Short.
Alternative sequence 275 – 764 Missing. In isoform 3.
Helix 669 – 678



Literature citations
Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism.
Duprez L.; Parma J.; van Sande J.; Allgeier A.; Leclere J.; Schvartz C.; Delisle M.-J.; Decoulx M.; Orgiazzi J.; Dumont J.E.; Vassart G.;
Nat. Genet. 7:396-401(1994)
Cited for: VARIANTS HTNA ALA-509 AND TYR-672;
Disclaimer: 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.