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15206121500

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[交流] 求教什么是stop-gain突变呀? 已有1人参与

求教什么是stop-gain突变呀?
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drwhoknowss

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就是一个氨基酸突变成Stop codon。 所以获得(gain)终止密码子。结果一般导致truncation
Progress in science depends on new techniques, new discoveries and new ideas, probably in that order. -- Nobel laureate Sydney Brenner
2楼2018-08-25 20:34:02
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15206121500

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2楼: Originally posted by drwhoknowss at 2018-08-25 20:34:02
就是一个氨基酸突变成Stop codon。 所以获得(gain)终止密码子。结果一般导致truncation

那不叫无义突变吗?为啥是stopgain
3楼2018-08-27 10:11:05
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drwhoknowss

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3楼: Originally posted by 15206121500 at 2018-08-27 03:11:05
那不叫无义突变吗?为啥是stopgain...

无义突变=Non-sense mutation
其实在我看来几乎跟stop-gain是一个意思了。
不过有人将Non-sense mutation非常详细划分4种情况。你参考

stop-gain: a mutation that results in a premature termination codon (a stop was gained), which signals the end of translation. This interruption causes the protein to be abnormally shortened. The number of amino acids lost mediates the impact on the protein’s functionality and whether it will function whatsoever.

stop-loss: a mutation in the original termination codon (a stop was lost), resulting in abnormal extension of a protein’s carboxyl terminus.

start-gain: creates a ATG start codon upstream of the original start site. If the new ATG is near the original start site, in-frame within the processed transcript and downstream to a ribosomal binding site, it can be used to initiate translation. The likely effect is additional amino acids added to the amino terminus of the original protein. Frame-shift mutations are also possible in start-gain mutations, but typically do not affect translation of the original protein.

start-loss: a point mutation in a transcript’s ATG start codon, resulting in the reduction or elimination of protein production.
Progress in science depends on new techniques, new discoveries and new ideas, probably in that order. -- Nobel laureate Sydney Brenner
4楼2018-08-27 18:53:42
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