Table 3 Summary of non-deletional mutations and their respective phenotypes. More concise lists of non-deletional mutations are presented in this link: (http://www.ithanet.eu/db/ithagenes; http://globin.bx.psu.edu/hbvar/menu.html) and are regularly updated [20,21,22]
Stages involved in gene regulation | Affected Sequence | Affected Gene | Specific Points of Mutation | Designated Name | Specific Region | Phenotype |
|---|---|---|---|---|---|---|
mRNA Processing | ||||||
IVS(a) | HBA2 | IVSI(−5 nt) | Not Available | Mediterranean | α+ | |
HBA1 | IVSI-1 | ,,,, | Thailand | α+ | ||
HBA2 | P1(AATAAG) | ,, | Mediterranean | α+-α0 | ||
Translation | ||||||
HBA2 | InitATG>ACG | ,, | Mediterranean | α+ | ||
HBA2 | InitATG>AG | ,, | Vietnam | α+ | ||
HBA2 | InitATG>GTG | ,, | Mediterranean | α+ | ||
HBA2 | InitATG>TG | ,, | South East Asia | α+ | ||
Exon II | HBA1 | Cd51–55(−13 bp) | ,, | Spain | α+ | |
HBA2 | Cd90 | ,, | Middle East | α+ | ||
Exon III | HBA1 | Cd131 | Hb Pak Num Po | Thailand | α0 | |
Termination | HBA2 | Term Cd 427 T,143G | Hb Constant Spring | South East Asia | α+ | |
HBA2 | Term Cd 428A, 143Ser | Hb Koya Dora | India | α+ | ||
HBA2 | Term Cd429A, 143Leu | Hb Paksé, | Laos and Thailand | α+ | ||
Protein Stability | ||||||
Exon II | HBA2 | Cd35 | Hb Evora | Philippines and Portugal | α+-α0 | |
HBA1 | Cd59 | Hb Adana | China | α+-α0 | ||
Exon III | HBA2 | Cd125 | Hb Quong Sze | China | α+ | |