Variant position: 376 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1548 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 VLNKGFQSSQALRVCNNYWI RENPNLNSTQEVNELLLGMAS
Rat FPKEGSSSSPALRVCNNYWI RENPSLKTAQDVDQLLLGMAS
Pig VLNESYGSFPALRVCNSYWI RENPNLNSAEAVNQLLLGMAS
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
26 – 1548 Dual oxidase 2
26 – 601 Extracellular
30 – 596 Peroxidase-like; mediates peroxidase activity
382 – 382 N-linked (GlcNAc...) asparagine
124 – 1162
Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.
Vigone M.C.; Fugazzola L.; Zamproni I.; Passoni A.; Di Candia S.; Chiumello G.; Persani L.; Weber G.;
Hum. Mutat. 26:395-395(2005)
Cited for: VARIANT TDH6 TRP-376;
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