Variant position: 307 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 LPFYRSSAACGTGDQGALFG NLSTANPRQQMNGLTSFLDAS
Mouse LPFYRSSAACGTGDQGALFG NLSAANPRQQMNGLTSFLDAS
Rat LPFYRSSAACGTGDQGALFG NLSAANPRQQMNGLTSFLDAS
Pig LPFYRSSAACGSGRQGALVG NLSWAAPRQQMNGLTSFLDAS
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
321 – 321 Calcium
323 – 323 Calcium; via carbonyl oxygen
325 – 325 Calcium
327 – 327 Calcium
307 – 307 N-linked (GlcNAc...) asparagine
274 – 446 Missing. In isoform 5.
Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect.
Rivolta C.M.; Esperante S.A.; Gruneiro-Papendieck L.; Chiesa A.; Moya C.M.; Domene S.; Varela V.; Targovnik H.M.;
Hum. Mutat. 22:259-259(2003)
Cited for: VARIANTS TDH2A THR-307; MET-433; LEU-499 AND ARG-808;
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.