Variant position: 799 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 933 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 QLTCTQEGWDFQPPLCKDVN ECADGAHPPCHASARCRNTKG
Mouse QVTCTQKGWDSEPPVCKDVN ECADLTHPPCHPSAQCKNTKG
Rat QVTCTQNGWDSEPPVCKDVN ECADLTHPPCHSSAKCKNTKG
Pig QITCTPRGWDSPPPLCKDIN ECEDETDPPCHASARCKNTKG
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
19 – 933 Thyroid peroxidase
19 – 846 Extracellular
796 – 839 EGF-like; calcium-binding
669 – 933 Missing. In isoform 6.
796 – 839 Missing. In isoform 4 and isoform 2-4.
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;
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