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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43826: Variant p.Gly50Glu

Glucose-6-phosphate exchanger SLC37A4
Gene: SLC37A4
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Variant information Variant position: help 50
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Glutamate (E) at position 50 (G50E, p.Gly50Glu).
Physico-chemical properties: help Change from glycine (G) to medium size and acidic (E)
BLOSUM score: help -2
Variant description: help In GSD1B.
Other resources: help


Sequence information Variant position: help 50
Protein sequence length: help 429
Location on the sequence: help TFSFVMPSLVEEIPLDKDDL G FITSSQSAAYAISKFVSGVL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 429 Glucose-6-phosphate exchanger SLC37A4



Literature citations
A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia.
Dissanayake V.H.; Jayasinghe J.D.; Thilakaratne V.; Jayasekara R.W.;
J. Mol. Genet. Med. 5:262-263(2011)
Cited for: VARIANT GSD1B GLU-50;
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.