血红蛋白蓬图瓦兹α63位丙氨酸被天冬氨酸取代（E12）。一种新的快速移动变体。
Hemoglobin Pontoise alpha63 Ala replaced by Asp(E12). A new fast moving variant.
作者信息
Thillet J, Blouquit Y, Perrone F, Rosa J
出版信息
Biochim Biophys Acta. 1977 Mar 28;491(1):16-22. doi: 10.1016/0005-2795(77)90036-8.
The present report describes structural and functional studies of a new hemoglobin variant, Hb J Pontoise. This abnormal hemoglobin was discovered in a 36 year old Spanish man. The substitution of alpha63 (E12) Ala replaced by Asp is situated at an external site and appears to have no influence on the function of the hemoglobin. Nevertheless, it presents some instability in vitro, as demonstrated by the isopropanol test. This instability could partially explain the low percentage of the abnormal hemoglobin in the hemolysate (12%), since its rate of synthesis was normal.
本报告描述了一种新型血红蛋白变体Hb J蓬图瓦兹的结构和功能研究。这种异常血红蛋白是在一名36岁的西班牙男性中发现的。α63（E12）位点的丙氨酸被天冬氨酸取代，该位点位于外部，似乎对血红蛋白的功能没有影响。然而，如异丙醇试验所示，它在体外表现出一定的不稳定性。这种不稳定性可以部分解释溶血产物中异常血红蛋白的低百分比（12%），因为其合成速率是正常的。
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