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UniProtKB/Swiss-Prot Q9NQR9: Variant p.Tyr207Ser

Glucose-6-phosphatase 2
Gene: G6PC2
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Variant information Variant position: help 207
Type of variant: help LB/B
Residue change: help From Tyrosine (Y) to Serine (S) at position 207 (Y207S, p.Tyr207Ser).
Physico-chemical properties: help Change from large size and aromatic (Y) to small size and polar (S)
BLOSUM score: help -2
Polymorphism: help Genetic variations in G6PC2 define the fasting plasma glucose levels quantitative trait locus 1 (FGQTL1) [MIM:612108]. The normal fasting plasma glucose level in the plasma is defined as less than 100 mg per deciliter (5.55 mmol per liter). Higher fasting plasma glucose levels predict type 2 diabetes in young adults and increases the risk of mortality.
Other resources: help


Sequence information Variant position: help 207
Protein sequence length: help 355
Location on the sequence: help MLVAEAFEHTPGIQTASLGT Y LKTNLFLFLFAVGFYLLLRV
Residue conservation: help
Human                         MLVAEAFEHTPGIQTASLGTYLKTNLFLFLFAVGFYLLLRV

Mouse                         MLVAEAFEHTPGVHMASLSVYLKTNVFLFLFALGFYLLLRL

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 355 Glucose-6-phosphatase 2
Topological domain 190 – 211 Cytoplasmic
Alternative sequence 103 – 355 Missing. In isoform 2.
Alternative sequence 155 – 355 Missing. In isoform 3.



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.