UniProtKB/SwissProt variant VAR

Paired mesoderm homeobox protein 2B
Gene: PHOX2B
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Variant information Variant position:

197
Type of variant:

LB/B
Residue change:

From Glycine (G) to Aspartate (D) at position 197 (G197D, p.Gly197Asp).
Physico-chemical properties:

Change from glycine (G) to medium size and acidic (D)
BLOSUM score:

-1
Variant description:

Confers susceptibility to neuroblastoma.
Other resources:

Variant rs104893856 [ dbSNP | Ensembl ]

Sequence information Variant position:

197
Protein sequence length:

314
Location on the sequence:

DSSRDDESKEAKSTDPDSTG G PGPNPNPTPSCGANGGGGGG
Residue conservation:

Human                         DSSRDDESKEAKSTDPDSTGGPGPNPNPTPSCGANGGGGGG

Mouse                         DSSRDDESKEAKSTDPDSTGGPGPNPNPTPSCGANGGGGGG

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99453: Variant p.Gly197Asp