Almost always, the sickle cell mutation is a non-conservative missense mutation that results in the sixth amino acid of beta-globin being valine instead of glutamic acid.
镰状细胞突变几乎总是由于非保守区错义突变,导致β-珠蛋白的第6个氨基酸为缬氨酸,而非谷氨酸。
单词 | Missense mutation |
释义 |
Missense mutation
原声例句
Osmosis-血液肿瘤 Almost always, the sickle cell mutation is a non-conservative missense mutation that results in the sixth amino acid of beta-globin being valine instead of glutamic acid. 镰状细胞突变几乎总是由于非保守区错义突变,导致β-珠蛋白的第6个氨基酸为缬氨酸,而非谷氨酸。 Osmosis-肌骨 On the other hand, mutations that allow for a misshapen protein to form, like missense mutations, lead to Becker muscular dystrophy which is basically a milder form of Duchenne muscular dystrophy that presents later on, usually between age 10 to 20. 另一方面,突变(如错义突变)会导致畸形蛋白形成,引发BMD,病情比DMD较轻,发病年龄较晚,一般在10到20岁。
英语百科
Missense mutation![]() ![]() In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. It is a type of nonsynonymous substitution. |
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