Variant position: 2234 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2768 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 QAIQVGTSWKQVDQFLGVPY AAPPLAERRFQAPEPLNWTGS
Mouse QVIKVGTAWKQVYRFLGVPY AAPPLADNRFRAPEVLNWTGS
Rat QVVKVGTAWKQVYQFLGVPY AAPPLAENRFQAPEVLNWTGS
Bovine QAIQVGTSWKPVDQFLGVPY AAPPLGEKRFRAPEHLNWTGS
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
20 – 2768 Thyroglobulin
2250 – 2250 N-linked (GlcNAc...) asparagine
Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene.
Caputo M.; Rivolta C.M.; Esperante S.A.; Gruneiro-Papendieck L.; Chiesa A.; Pellizas C.G.; Gonzalez-Sarmiento R.; Targovnik H.M.;
Clin. Endocrinol. (Oxf.) 67:351-357(2007)
Cited for: VARIANTS TDH3 TYR-183 AND ASP-2234;
The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.
Pardo V.; Vono-Toniolo J.; Rubio I.G.; Knobel M.; Possato R.F.; Targovnik H.M.; Kopp P.; Medeiros-Neto G.;
J. Clin. Endocrinol. Metab. 94:2938-2944(2009)
Cited for: VARIANT TDH3 ASP-2234; CHARACTERIZATION OF VARIANT TDH3 ASP-2234;
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