UniProtKB/SwissProt variant VAR

Glucose-6-phosphatase 2
Gene: G6PC2
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Variant information Variant position:

207
Type of variant:

LB/B
Residue change:

From Tyrosine (Y) to Serine (S) at position 207 (Y207S, p.Tyr207Ser).
Physico-chemical properties:

Change from large size and aromatic (Y) to small size and polar (S)
BLOSUM score:

-2
Polymorphism:

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:

Variant rs2232323 [ dbSNP | Ensembl ]

Sequence information Variant position:

207
Protein sequence length:

355
Location on the sequence:

MLVAEAFEHTPGIQTASLGT Y LKTNLFLFLFAVGFYLLLRV
Residue conservation:

Human                         MLVAEAFEHTPGIQTASLGTYLKTNLFLFLFAVGFYLLLRV

Mouse                         MLVAEAFEHTPGVHMASLSVYLKTNVFLFLFALGFYLLLRL

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NQR9: Variant p.Tyr207Ser