TP53 CONSERVED DOMAIN MUT

这种保守域突变变异体包括p53区域的突变,据报道在进化过程中高度保守。这些区域跨越密码子117-143(区域II)、171-181(区域III)、234-258(区域IV)和270-286(区域V)。区域I覆盖了大约10到25个密码子,但并没有出现在所有保守域突变的研究中。这些区域和热点p53突变的报告区域有重叠,在这里观察到有害突变的热点对应于更高度进化保守的区域。虽然不同的报告之间存在一致性和重叠性,但文献似乎没有表明人类p53的这些区域在这一时期的确切一致性,但这四个高度保守的区域是DNA结合域的一部分,并且据报道存在于密码子97到292中。
This conserved domain mutation variant covers mutations in regions of p53 reported to be highly conserved during evolution. These regions span codons 117-143 (region II), 171-181 (region III), 234-258 (region (IV), and 270-286 (region V). Region I covers approximately codons 10 through 25 but does not appear in all studies on conserved domain mutations. There is overlap with these regions and reported regions of hotspot p53 mutations, where it is observed that hotspots for detrimental mutation correspond to more highly evolutionary conserved regions. While there is agreement and overlap between different reports, the literature does not seem to indicate an exact consensus on these regions of human p53 at this time, but the four highly conserved regions are part of the DNA binding domain, and are reported to exist within codons 97 to 292.

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突变位点

Ref. Build:    Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
1775770627579398
Transcript
ENST00000269305.4

基因序列