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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07202: Variant p.Glu799Lys

Thyroid peroxidase
Gene: TPO
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Variant information Variant position: help 799 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 Glutamate (E) to Lysine (K) at position 799 (E799K, p.Glu799Lys). 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 acidic (E) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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 TDH2A. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 799 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 933 The length of the canonical sequence.
Location on the sequence: help QLTCTQEGWDFQPPLCKDVN E CADGAHPPCHASARCRNTKG 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                         QLTCTQEGWDFQPPLCKDVNECADGAHPPCHASARCRNTKG

                              QVACSPRGGAVRAPVCRDINECEDASHPPCHGSARCRNTKG

Mouse                         QVTCTQKGWDSEPPVCKDVNECADLTHPPCHPSAQCKNTKG

Rat                           QVTCTQNGWDSEPPVCKDVNECADLTHPPCHSSAKCKNTKG

Pig                           QITCTPRGWDSPPPLCKDINECEDETDPPCHASARCKNTKG
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 19 – 933 Thyroid peroxidase
Topological domain 19 – 846 Extracellular
Domain 796 – 839 EGF-like; calcium-binding
Alternative sequence 669 – 933 Missing. In isoform 6.
Alternative sequence 796 – 839 Missing. In isoform 4 and isoform 2-4.



Literature citations
Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis.
Bikker H.; Vulsma T.; Baas F.; de Vijlder J.J.M.;
Hum. Mutat. 6:9-16(1995)
Cited for: VARIANTS TDH2A ASP-453; SER-590 AND LYS-799; VARIANTS SER-257; SER-373; THR-398 AND PRO-725; Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.
Pannain S.; Weiss R.E.; Jackson C.E.; Dian D.; Beck J.C.; Sheffield V.C.; Cox N.; Refetoff S.;
J. Clin. Endocrinol. Metab. 84:1061-1071(1999)
Cited for: VARIANTS TDH2A GLN-648 AND LYS-799; Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update).
Bakker B.; Bikker H.; Vulsma T.; de Randamie J.S.E.; Wiedijk B.M.; De Vijlder J.J.M.;
J. Clin. Endocrinol. Metab. 85:3708-3712(2000)
Cited for: VARIANTS TDH2A THR-326; PHE-447; ASP-453; CYS-527; TRP-693 AND LYS-799;
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.