% protein number onset on and of activity of mutation(s) Patient effect predicted age disease gaa color results structure symptoms treatment function form 10031 No color change TYR STOP Protein structure Minimal GAA enzyme 6.5 months heart murmur Infant ERT (<1% GAA activity) 18A>T Point mutation severely produced and/or Weak Muscles causes NONSENSE compromised limited function G-Tube MUTATION 20032 No color change CYC STOP Protein structure Minimal GAA enzyme 5 months floppy baby Infant ert (<1% GAA activity) 21A>T Point mutation severely produced and/or respiratory causes NONSENSE compromised limited function problems MUTATION physically weak; can’t sit up, little head control 30033 No change INSERTION (A) CAUSES No protein No GAA enzyme 3.5 months floppy baby Infant died before ert (<1% GAA activity) FRAMESHIFT ELIMINATING produced produced murmur START CODON NG tube 40034 No color change BASE 6 DELETION (A) Protein structure Minimal GAA enzyme birth enlarged heart Infant died before ERT (<1% GAA activity) CAUSES FRAMESHIFT AND severely produced and/or respiratory distress COMPLETELY DIFFERENT compromised limited function weak muscles AA SEQUENCE 50035 Yellow 14A>G 4th aa: ILE THR Some amino acid Some GAA enzyme 7 years repiratory problems Delayed on-set ert (<20% GAA activity) 32C>A 11th aa: SER ILE changes resulting produced although the muscle weakness (juvenile) physical therapy Missense mutation in an altered function is reduced 45T>C 15th aa: CCT CCC protein structure = NO CHANGE IN AA (silent mutation) 60036 Yellow INSERTION CAUSES Some amino acid Some GAA enzyme 16 years severe fatigue and Delayed on-set Bi-Pap at night (<20% GAA activity) FRAMESHIFT, ASN LYS changes resulting produced although the weakness (juvenile) special diet AND STOP CODON in an altered function is reduced exercise program Missense and nonsense protein structure *waiting for ERT mutation
Patient number gaa activity results color and % mutation(s) effect on protein structure predicted function age of onset symptoms form of disease treatment 10031 No color change (<1% GAA activity) TYR STOP 18A>T Point mutation causes NONSENSE MUTATION Protein structure severely compromised Minimal GAA enzyme produced and/or limited function 6.5 months heart murmur Weak Muscles G-Tube Infant ERT 20032 No color change (<1% GAA activity) CYC STOP 21A>T Point mutation causes NONSENSE MUTATION Protein structure severely compromised Minimal GAA enzyme produced and/or limited function 5 months floppy baby respiratory problems physically weak; can’t sit up, little head control Infant ert 30033 No change (<1% GAA activity) INSERTION (A) CAUSES FRAMESHIFT ELIMINATING START CODON No protein produced No GAA enzyme produced 3.5 months floppy baby murmur NG tube Infant died before ert 40034 No color change (<1% GAA activity) BASE 6 DELETION (A) CAUSES FRAMESHIFT AND COMPLETELY DIFFERENT AA SEQUENCE Protein structure severely compromised Minimal GAA enzyme produced and/or limited function birth enlarged heart respiratory distress weak muscles Infant died before ERT 50035 Yellow (<20% GAA activity) 14A>G 4th aa: ILE THR 32C>A 11th aa: SER ILE Missense mutation 45T>C 15th aa: CCT CCC = NO CHANGE IN AA (silent mutation) Some amino acid changes resulting in an altered protein structure Some GAA enzyme produced although the function is reduced 7 years repiratory problems muscle weakness Delayed on-set (juvenile) ert physical therapy 60036 Yellow (<20% GAA activity) INSERTION CAUSES FRAMESHIFT, ASN LYS AND STOP CODON Missense and nonsense mutation Some amino acid changes resulting in an altered protein structure Some GAA enzyme produced although the function is reduced 16 years severe fatigue and weakness Delayed on-set (juvenile) Bi-Pap at night special diet exercise program *waiting for ERT
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