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Results 1 - 10 of 214 for HISTIDINE OR THREONINE OR GLYCINE OR PROLINE OR glutamine ACID OR VALINE OR LYSINE OR ASPARTIC ACID OR PHENYLALANINE OR LEUCINE OR ISOLEUCINE OR TRYPTOPHAN OR TYROSINE OR METHIONINE OR ALANINE OR ARGININE 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. COL2A1 gene 
    ... the pro-alpha1(II) chain. Specifically, the amino acid glycine is replaced with a different amino acid at ... the pro-alpha1(II) chain. Specifically, the amino acid glycine is replaced with a different amino acid at ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  3. COL4A1 gene 
    ... IV collagen. Specifically, the mutations replace the amino acid glycine with a different amino acid at one of ... IV collagen. Specifically, the mutations replace the amino acid glycine with a different amino acid at one of ...
    https://medlineplus.gov/genetics/gene/col4a1 - Genetics
  4. LRRK2 gene 
    ... replaces the amino acid arginine with the amino acid glycine at protein position 1441 (written as Arg1441Gly or ... s disease cases. This mutation replaces the amino acid glycine with the amino acid serine at protein position ...
    https://medlineplus.gov/genetics/gene/lrrk2 - Genetics
  5. 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
  6. 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
  7. CBS gene 
    ... synthase. The most common mutation substitutes the amino acid threonine for the amino acid isoleucine at position 278 ... homocystinuria in the Irish population, replaces the amino acid glycine with the amino acid serine at position 307 ( ...
    https://medlineplus.gov/genetics/gene/cbs - Genetics
  8. PSMB8 gene 
    ... produced from the PSMB8 gene, replacing the amino acid glycine with the amino acid valine at protein position ... with CANDLE syndrome. This mutation replaces the amino acid threonine with the amino acid methionine at protein position ...
    https://medlineplus.gov/genetics/gene/psmb8 -
  9. HRAS gene 
    ... cases of Costello syndrome; it replaces the amino acid glycine with the amino acid serine at protein position ... protein. The most common mutation replaces the amino acid glycine with the amino acid valine at protein position ...
    https://medlineplus.gov/genetics/gene/hras - Genetics
  10. COL1A1 gene 
    ... pro-α1(I) chain, usually replacing the amino acid glycine with a different amino acid. In some cases, ... described above). These mutations usually replace the amino acid glycine with a different amino acid in the pro- ...
    https://medlineplus.gov/genetics/gene/col1a1 - Genetics
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