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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43826: Variant p.Arg300Cys

Glucose-6-phosphate exchanger SLC37A4
Gene: SLC37A4
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Variant information Variant position: help 300
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Cysteine (C) at position 300 (R300C, p.Arg300Cys).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (C)
BLOSUM score: help -3
Variant description: help In GSD1B.
Other resources: help


Sequence information Variant position: help 300
Protein sequence length: help 429
Location on the sequence: help AGYLSDRAMAKAGLSNYGNP R HGLLLFMMAGMTVSMYLFRV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 429 Glucose-6-phosphate exchanger SLC37A4



Literature citations
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.
Veiga-da-Cunha M.; Gerin I.; Chen Y.-T.; Lee P.J.; Leonard J.V.; Maire I.; Wendel U.; Vikkula M.; Van Schaftingen E.;
Eur. J. Hum. Genet. 7:717-723(1999)
Cited for: VARIANTS GSD1B ARG-50; ARG-176; ARG-183 AND CYS-300; VARIANTS GSD1C PRO-133 AND SER-376;
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.