Variant position: 141 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 314 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 HYPDIYTREELALKIDLTEA RVQVWFQNRRAKFRKQERAAA
Mouse HYPDIYTREELALKIDLTEA RVQVWFQNRRAKFRKQERAAA
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 – 314 Paired mesoderm homeobox protein 2B
98 – 157 Homeobox
PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.
Trochet D.; O'Brien L.M.; Gozal D.; Trang H.; Nordenskjoeld A.; Laudier B.; Svensson P.-J.; Uhrig S.; Cole T.; Niemann S.; Munnich A.; Gaultier C.; Lyonnet S.; Amiel J.;
Am. J. Hum. Genet. 76:421-426(2005)
Cited for: VARIANTS CCHS GLN-141 AND ARG-143; TRIPLET REPEAT EXPANSION;
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