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ARGININE OR CHOLINE OR LEVOCARNITINE OR ORNITHINE OR PANTOTHENIC ACID
- ... PANK2_HUMAN pantothenate kinase 2 (Hallervorden-Spatz syndrome) pantothenic acid kinase Tests of PANK2 PubMed PANTOTHENATE KINASE 2; ...
- ... are affected. More About This Health Condition ARG arginine-glutamic acid dipeptide (RE) repeats arginine-glutamic acid repeats-encoding gene ARP ATN1L atrophin 2 atrophin- ...
- ... retina OAT deficiency OKT deficiency Ornithine aminotransferase deficiency Ornithine keto acid aminotransferase deficiency Ornithine-delta-aminotransferase deficiency Ornithinemia with ...
- ... protein. The most common mutation replaces the amino acid arginine with the amino acid cysteine at position 124 ( ... For instance, the mutation that replaces the amino acid arginine at position 124 with the amino acid histidine ( ...
- ... disease. Two of these mutations change the amino acid arginine at position 218 in the protein. One replaces ... replaces the amino acid cysteine with the amino acid arginine at protein position 225 (written as Cys225Arg C225R). ...
- ... protein building block (amino acid), replacing the amino acid arginine with the amino acid cysteine at protein position ... types of Ehlers-Danlos syndrome replaces the amino acid arginine with the amino acid cysteine at position 312 ...
- ... that causes atelosteogenesis type 2 replaces the amino acid arginine with the amino acid tryptophan at position 279 ... protein. The most common mutation replaces the amino acid arginine with the amino acid tryptophan at position 279 ...
- ... written as G11778A or Arg340His, replaces the amino acid arginine with the amino acid histidine at protein position ... written as C11777A or Arg340Ser, replaces the amino acid arginine with the amino acid serine at protein position ...
- ... building block (amino acid) glycine with the amino acid arginine at a specific location within the FGFR3 protein. ... variant that causes Muenke syndrome substitutes the amino acid arginine for the amino acid proline at a specific ...
- ... protein chains at the protein building blocks (amino acids) arginine or lysine, which breaks down the protein. Trypsin ... mutation that causes hereditary pancreatitis replaces the amino acid arginine with the amino acid histidine at position 122 ...