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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43826: Variant p.Tyr24His

Glucose-6-phosphate exchanger SLC37A4
Gene: SLC37A4
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Variant information Variant position: help 24
Type of variant: help LP/P [Disclaimer]
Residue change: help From Tyrosine (Y) to Histidine (H) at position 24 (Y24H, p.Tyr24His).
Physico-chemical properties: help Change from large size and aromatic (Y) to medium size and polar (H)
BLOSUM score: help 2
Variant description: help In GSD1B.
Other resources: help


Sequence information Variant position: help 24
Protein sequence length: help 429
Location on the sequence: help QGYGYYRTVIFSAMFGGYSL Y YFNRKTFSFVMPSLVEEIPL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 429 Glucose-6-phosphate exchanger SLC37A4



Literature citations
Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.
Yuen Y.-P.; Cheng W.-F.; Tong S.-F.; Chan Y.-T.; Chan Y.-W.; Lam C.-W.;
Mol. Genet. Metab. 77:249-251(2002)
Cited for: VARIANT GSD1B HIS-24;
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.