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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07902: Variant p.Gln118His

Galactose-1-phosphate uridylyltransferase
Gene: GALT
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Variant information Variant position: help 118
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamine (Q) to Histidine (H) at position 118 (Q118H, p.Gln118His).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and polar.
BLOSUM score: help 0
Variant description: help In GALAC1.
Other resources: help


Sequence information Variant position: help 118
Protein sequence length: help 379
Location on the sequence: help DFPALQPDAPSPGPSDHPLF Q AKSARGVCKVMCFHPWSDVT
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 379 Galactose-1-phosphate uridylyltransferase
Alternative sequence 18 – 126 Missing. In isoform 2.
Beta strand 117 – 119



Literature citations
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase 'GALT' gene.
Tyfield L.; Reichardt J.; Fridovich-Keil J.; Croke D.T.; Elsas L.J. II; Strobl W.; Kozak L.; Coskun T.; Novelli G.; Okano Y.; Zekanowski C.; Shin Y.; Boleda M.D.;
Hum. Mutat. 13:417-430(1999)
Cited for: VARIANTS GALAC1 LEU-51; ASN-98; ASN-113; LEU-114; SER-117; HIS-118; GLN-123; ALA-125; GLU-127; TYR-130; TYR-132; PRO-139; VAL-142; GLY-154; ARG-167; ASP-179; ASN-192; LEU-194; MET-198; THR-198; THR-199; HIS-201; LYS-203; PRO-204; CYS-209; SER-209; PRO-217; PRO-226; ARG-249; CYS-251; CYS-258; TRP-259; PRO-262; GLY-272; VAL-282; ARG-289; LYS-291; LYS-308; ARG-317; HIS-317; ASP-323; HIS-323; SER-324; HIS-328; GLN-333; GLY-333; ARG-334; LEU-336 AND ALA-350;
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.