The pattern of amino acid banding on the thin layer chromatography plates will be normal.
.In the event of abnormal results, there are many other tests that will be performed to determine the specific amino acid involved in the abnormality.
Two types of amino acid screening tests are used together to diagnose amino acid disorders.Blood plasma screening.Urine test.Both these tests use thin layer chromatography to separate the amino acids present.
The blood plasma amino acid pattern is abnormal in overflow aminoaciduria and is normal in renal aminoaciduria. The pattern is abnormal in the urine test, suggesting additional tests need to be done to determine which amino acids are involved.
Missense is a type of mutation which results in the formation of a protein with one incorrect amino acid.
loss of only one amino acid from the normal hemoglobin molecule
Phenylketonuria (PKU) is the human genetic defect that results in the failure to metabolize the amino acid phenylalanine.
A mutation that causes the code for the wrong amino acid (apexvs.com)
A stop codon (UGA, UAA, UAG) only codes for a stop. No amino acid results from a stop codon.
Cystinuria is an inborn error of amino acid transport that results in the defective absorption by the kidneys of the amino acid called cystine. The name means "cystine in the urine."
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Sickle cell anaemia is such a genetic disease. The sixth amino acid in the beta chain of haeme which is glutamic acid in normal people gets replaced by valine in sickle cell anaemia patients. This simple change in the amino acid sequence results in the the sickle shape of RBCs
Protein