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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P16473: Variant p.Leu629Phe

Thyrotropin receptor
Gene: TSHR
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Variant information Variant position: help 629 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 Leucine (L) to Phenylalanine (F) at position 629 (L629F, p.Leu629Phe). 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 hydrophobic (L) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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; also in hyperfunctioning thyroid adenomas and non-adenomatous nodules. Any additional useful information about the variant.


Sequence information Variant position: help 629 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 RNPQYNPGDKDTKIAKRMAV L IFTDFICMAPISFYALSAIL 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                         RNPQYNPGDKDTKIAKRMAVLIFTDFICMAPISFYALSAIL

                              RNPQYNPGDKDTKIAKRMAVLIFTDFMCMAPISFYALSALM

Mouse                         RNPQYNPRDKDTKIAKRMAVLIFTDFMCMAPISFYALSALM

Rat                           RNPQYNPRDKDTKIAKRMAVLIFTDFMCMAPISFYALSALM

Pig                           RNPQYNPGDKDTKIAKRMAVLIFTDFMCMAPISFYALSALM

Bovine                        RNPHYNPGDKDTRIAKRMAVLIFTDFMCMAPISFYALSALM

Sheep                         RNPHYNPGDKDTRIAKRMAVLIFTDFMCMAPISFYALSALM

Cat                           RNPQYNTGDKDTKIAKRMAVLIFTDFMCMAPISFYALSALM
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 626 – 649 Helical; Name=6
Alternative sequence 254 – 764 Missing. In isoform Short.
Alternative sequence 275 – 764 Missing. In isoform 3.
Helix 618 – 648



Literature citations
Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gs alpha genes as a cause of toxic thyroid adenomas.
Parma J.; Duprez L.; van Sande J.; Hermans J.; Rocmans P.; van Vliet G.; Costagliola S.; Rodien P.; Dumont J.E.; Vassart G.;
J. Clin. Endocrinol. Metab. 82:2695-2701(1997)
Cited for: VARIANTS HYPERTHYROIDISM ASN-281; THR-281; THR-453; PHE-486; MET-486; THR-568; GLY-619; ILE-623; PHE-629; LEU-630; LEU-631; ILE-632; ALA-633; GLU-633; HIS-633; TYR-633 AND 658-ASN--ILE-661 DEL; Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism.
Fuhrer D.; Wonerow P.; Willgerodt H.; Paschke R.;
J. Clin. Endocrinol. Metab. 82:4234-4238(1997)
Cited for: VARIANT HTNA PHE-629; Activating thyrotropin receptor mutations are present in nonadenomatous hyperfunctioning nodules of toxic or autonomous multinodular goiter.
Tonacchera M.; Agretti P.; Chiovato L.; Rosellini V.; Ceccarini G.; Perri A.; Viacava P.; Naccarato A.G.; Miccoli P.; Pinchera A.; Vitti P.;
J. Clin. Endocrinol. Metab. 85:2270-2274(2000)
Cited for: VARIANTS HTNA ASN-281; MET-486; PHE-486; PHE-629; ALA-632; ILE-632; GLU-633 AND VAL-647;
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.