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Two novel alleles on Fucosyltransferase 2 from northern Thai para-Bombay family and computational prediction on mutation effect.

Nampeung AnukulRatsameetip WitaNipapan LeetrakoolChonticha SirikulNatnaree VeeraphanSiripong Wongchai
Published in: Transfusion (2021)
Two novel alleles in FUT2 were reported among the affected para-Bombay individuals of northern Thai families. The c.617T>C variant caused an amino acid change from valine to alanine at position 206, predicted to be an inactive FUT2 enzyme. Inheritance of this variant with the recessive FUT1 allele may lead to inheritance of the rare Bombay blood group in the progeny.
Keyphrases
  • amino acid
  • mitochondrial dna
  • intellectual disability
  • muscular dystrophy
  • dna methylation
  • autism spectrum disorder