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+
|
- HBA1 and HBA2 are alpha-globin genes according to the HUGO nomenclature. Cd Codon, P Poly-A Signal, term Termination codon, Del Deletion, int Initiation codon, and Hb Haemoglobin. (Modified from Cornelis, L. Harteveld and Douglas, R. Higgs, 2010 [23]).