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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P39905: Variant p.Asp150Asn

Glial cell line-derived neurotrophic factor
Gene: GDNF
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Variant information Variant position: help 150
Type of variant: help LB/B
Residue change: help From Aspartate (D) to Asparagine (N) at position 150 (D150N, p.Asp150Asn).
Physico-chemical properties: help Change from medium size and acidic (D) to medium size and polar (N)
BLOSUM score: help 1
Variant description: help Risk factor for Hirschsprung disease.
Other resources: help


Sequence information Variant position: help 150
Protein sequence length: help 211
Location on the sequence: help LGLGYETKEELIFRYCSGSC D AAETTYDKILKNLSRNRRLV
Residue conservation: help 
Human                         LGLGYETKEELIFRYCSGSCDAAETTYDKILKNLSRNRRLV

Mouse                         LGLGYETKEELIFRYCSGSCESAETMYDKILKNLSRSRRLT

Rat                           LGLGYETKEELIFRYCSGSCEAAETMYDKILKNLSRSRRLT

Xenopus laevis                LGLGYETKEELKFRYCSGSCNNPETTYDQILKNLTIRKKLV

Zebrafish                     LDLGYRTKEELIFRYCSGPCHDAETNYDKILNNLTHNKKLD
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 78 – 211 Glial cell line-derived neurotrophic factor
Glycosylation 162 – 162 N-linked (GlcNAc...) asparagine
Disulfide bond 118 – 179
Disulfide bond 145 – 208
Disulfide bond 149 – 210



Literature citations
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease.
Salomon R.; Attie T.; Pelet A.; Bidaud C.; Eng C.; Amiel J.; Sarnacki S.; Goulet O.; Ricour C.; Nihoul-Fekete C.; Munnich A.; Lyonnet S.;
Nat. Genet. 14:345-347(1996)
Cited for: VARIANT HSCR3 SER-21; VARIANT ASN-150;
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.