Pub. Date : 1991 Nov
PMID : 1928091
3 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
1 | Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene. | Histidine | carbonic anhydrase 2 | Homo sapiens |
2 | His-107 appears to have a stabilizing function in the structure of all CA molecules, and its substitution by Tyr apparently disrupts the critical hydrogen bonding of His-107 to two other similarly invariant residues, Glu-117 and Tyr-194, resulting in an unstable CA II molecule. | Histidine | carbonic anhydrase 2 | Homo sapiens |
3 | His-107 appears to have a stabilizing function in the structure of all CA molecules, and its substitution by Tyr apparently disrupts the critical hydrogen bonding of His-107 to two other similarly invariant residues, Glu-117 and Tyr-194, resulting in an unstable CA II molecule. | Histidine | carbonic anhydrase 2 | Homo sapiens |