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Results 1 - 10 of 147 for HISTIDINE OR PROLINE OR THREONINE OR glutamine ACID OR GLYCINE OR ASPARTIC ACID OR VALINE OR LYSINE OR PHENYLALANINE OR LEUCINE OR TRYPTOPHAN OR TYROSINE OR ISOLEUCINE OR TAURINE OR METHIONINE OR CYSTEINE OR ARGININE OR ALANINE OR SERINE
  1. Histidinemia 
    ... characterized by elevated blood levels of the amino acid histidine, a building block of most proteins. Histidinemia is ... making an enzyme called histidase. Histidase breaks down histidine to a molecule called urocanic acid. Histidase is active (expressed) primarily in the liver ...
    https://medlineplus.gov/genetics/condition/histidinemia - Genetics
  2. ALDH18A1 gene 
    ... formation (synthesis) of the protein building block (amino acid) proline.The formation of proline is a multi-step ... converts the amino acid glutamate to the amino acid proline. The P5CS protein carries out the first step ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
  3. Hyperprolinemia 
    ... excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when ... the previous reaction, converting it to the amino acid glutamate. The conversion of proline to glutamate (and the conversion of glutamate to ...
    https://medlineplus.gov/genetics/condition/hyperprolinemia - Genetics
  4. Amino acids 
    ... include: alanine, arginine, asparagine, aspartic acid, cysteine, glutamic acid, glutamine, glycine, proline, serine, and tyrosine. CONDITIONALLY ESSENTIAL AMINO ...
    https://medlineplus.gov/ency/article/002222.htm - Medical Encyclopedia
  5. PYCR1 gene 
    ... formation (synthesis) of the protein building block (amino acid) proline.The formation of proline is a multi-step ... converts the amino acid glutamate to the amino acid proline. The PYCR1 protein carries out the last step ...
    https://medlineplus.gov/genetics/gene/pycr1 - Genetics
  6. BRAF gene 
    ... the BRAF protein: One mutation replaces the amino acid threonine with the amino acid proline at position 241 (written as Thr241Pro or T241P) and the other mutation replaces the amino acid leucine with the amino acid phenylalanine at position ...
    https://medlineplus.gov/genetics/gene/braf - Genetics
  7. ATP7B gene 
    ... A common amino acid substitution replaces the amino acid histidine with the amino acid glutamine at position 1069 in the protein (written as His1069Gln or H1069Q). This particular mutation occurs in nearly 40 percent ... replaces the amino acid arginine with the amino acid leucine at position ...
    https://medlineplus.gov/genetics/gene/atp7b - Genetics
  8. FGFR2 gene 
    ... as Ser252Trp). The other mutation replaces the amino acid proline with the amino acid arginine at position 253 ( ... replaces the amino acid alanine with the amino acid threonine at position 628 in the FGFR2 protein (written ...
    https://medlineplus.gov/genetics/gene/fgfr2 - Genetics
  9. SLC40A1 gene 
    ... associated with increased iron stores replaces the amino acid glutamine with the amino acid histidine at position 248 in the ferroportin protein sequence ...
    https://medlineplus.gov/genetics/gene/slc40a1 - Genetics
  10. TTPA gene 
    ... found in the Japanese population changes the amino acid histidine to the amino acid glutamine at position 101 in the αTTP protein (written ...
    https://medlineplus.gov/genetics/gene/ttpa - Genetics
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