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- #161
Two copies of the "Christchurch" APOE3 mutation in this recently reported Columbian case supports an isoelectric hypothesis. APOE3 differs from APOE2 by a single amino acid substitution of arginine for cysteine at residue 158. The "Christchurch" mutation sequence shows a valine flanked by two arginines, one of which will subsequently become a serine. From position 133 to 140, the sequence is LRVR/LASH, slash mark being at 136. Branched-chain aminos in this sequence are leucine(L) and valine (V). Intriguingly, regardless of whether it's APOE or presenilin sequences, the phantom potential of alanine-to-valine (and vice versa), remains.