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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99453: Variant p.Gly197Asp

Paired mesoderm homeobox protein 2B
Gene: PHOX2B
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Variant information Variant position: help 197
Type of variant: help LB/B
Residue change: help From Glycine (G) to Aspartate (D) at position 197 (G197D, p.Gly197Asp).
Physico-chemical properties: help Change from glycine (G) to medium size and acidic (D)
BLOSUM score: help -1
Variant description: help Confers susceptibility to neuroblastoma.
Other resources: help


Sequence information Variant position: help 197
Protein sequence length: help 314
Location on the sequence: help DSSRDDESKEAKSTDPDSTG G PGPNPNPTPSCGANGGGGGG
Residue conservation: help
Human                         DSSRDDESKEAKSTDPDSTGGPGPNPNPTPSCGANGGGGGG

Mouse                         DSSRDDESKEAKSTDPDSTGGPGPNPNPTPSCGANGGGGGG

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 314 Paired mesoderm homeobox protein 2B
Region 162 – 246 Disordered



Literature citations
PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations.
McConville C.; Reid S.; Baskcomb L.; Douglas J.; Rahman N.;
Am. J. Med. Genet. A 140:1297-1301(2006)
Cited for: VARIANT ASP-197; NEUROBLASTOMA SUSCEPTIBILITY;
Disclaimer: 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.