Variant position: 354 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 643 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 EDLPGVPGLFLACAYSGTLS TASTSINAMAAVTVEDLIKPR
Mouse EDLPGVPGLFLACAYSGTLS TASTSINAMAAVTVEDLIKPR
Rat EDLPGVPGLFLACAYSGTLS TASTSINAMAAVTVEDLIKPR
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
1 – 643 Sodium/iodide cotransporter
348 – 391 Cytoplasmic
Congenital hypothyroidism caused by a mutation in the Na(+)/I(-) symporter.
Fujiwara H.; Tatsumi K.; Miki K.; Harada T.; Miyai K.; Takai S.; Amino N.;
Nat. Genet. 16:124-125(1997)
Cited for: VARIANT TDH1 PRO-354;
Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients.
Kosugi S.; Inoue S.; Matsuda A.; Jhiang S.M.;
J. Clin. Endocrinol. Metab. 83:3373-3376(1998)
Cited for: VARIANTS TDH1 ARG-93; PRO-354 AND GLU-543;
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