-101 (C->T)
-92 (C->T)
-90 (C->T)
-88 (C->A)
-88 (C->T)
-87 (C->A)
-87 (C->G)
-87 (C->T)
-86 (C->A)
-86 (C->G)
-32 (C->A)
-31 (A->C)
-31 (A->G)
-30 (T->A)
-30 (T->C)
-29 (A->G)
-28 (A->C)
-28 (A->G)
CAP +1 (A->C)
5'UTR; +10 (-T)
5'UTR; +22 (G->A)
5'UTR; +33 (C->G)
5'UTR; +43 to +40 (-AAAC)
Initiation codon ATG->GTG
Initiation codon ATG->ACG
Initiation codon ATG->AGG
Initiation codon ATG->ATA
Initiation codon ATG->ATC
Initiation codon ATG->ATT
Codon 1 (-G); GTG(Val)->-TG
Codons 2/3/4 (-9 bp; +31 bp); (see below)
Codon 5 (-CT); CCT(Pro)->C--
Codon 6 (-A); GAG(Glu)->G-G
Codon 8 (-AA); AAG(Lys)->--G
Codons 8/9 (+G); AAG·TCT(Lys;Ser)->AAG·G·TCT
Codons 9/10 (+T); TCT·GCC(Ser;Ala)->TCT·T·GCC
Codon 10 (C->A); GCC(Ala)->GCA(Ala)
Codon 11 (-T); GTT(Val)->GT-
Codons 14/15 (+G);
Codon 15 (G->A); TGG(Trp)->TAG(stop codon)
Codon 15 (G->A); TGG(Trp)->TGA(stop codon)
Codon 15 (-T); TGG(Trp)->-GG
Codon 16 (-C); GGC(Gly)->GG-
Codon 17 (A->T); AAG(Lys)->TAG(stop codon)
Codon 19 (A->G); AAC(Asn)->AGC(Ser)
Codon 22 (A->C); GAA(Glu)->GCA(Ala) (not listed in Table I; this mutation is likely not associated with thalassemia)
Codon 22 (G->T); GAA(Glu)->TAA(stop codon)
Codons 22/23/24 (GAA·GTT·GGT; Glu·Val·Gly); deletion of -AAGTTGG
Codon 24; GGT(Gly); (-G; +CAC)
Codon 24 (T->A); GGT(Gly)->GGA(Gly)
Codons 24/25 (-GGT); GGT·GGT(Gly-Gly)->---·GGT(Gly)
Codons 25/26 (+T); GGT·GAG(Gly-Glu)->GGT·T·GAG(Gly-Term)
Codon 26 (GAG->AAG)
Codon 26 (G->T); GAG(Glu)->TAG(stop codon)
Codon 26 (+T); GAG(Glu)->GTAG
Codon 27 (G->T); GCC(Ala)->TCC(Ser)
Codons 27/28 (+C); GCC·CTG(Ala·Ser)->GCC·C·CTG
Codon 28 (-C); CTG(Leu)->-TG
Codon 28 (T->G); CTG(Leu)->CGG(Arg)
Codons 28/29 (-G); CTG·GGC(Leu·Gly)->CTG·-GC
IVS-I (-3) or codon 29 (C->T); GGC(Gly)->GGT(Gly)
IVS-I (-2) or codon 30 (A->G); AG^GTTGGT->GG^GTTGGT
IVS-I (-1) or codon 30 (G->A); AG^GTTGGT->AA^GTTGGT
IVS-I (-1) or codon 30 (G->C); AG^GTTGGT->AC^GTTGGT
IVS-I-1 (G->A); AG^GTTGGT->AGATTGGT
IVS-I-1 (G->T); AG^GTTGGT->AGTTTGGT
IVS-I-2 (T->A); AG^GTTGGT->AGGATGGT
IVS-I-2 (T->C); AG^GTTGGT->AGACTGGT
IVS-I-2 (T->G); AG^GTTGGT->AGGGTGGT
IVS-I-5 (G->A)
IVS-I-5 (G->A) plus the 7,201 bp deletion involving part of the delta gene; the Corfu deletion (deltabeta-thal)
IVS-I-5 (G->C)
IVS-I-5 (G->T)
IVS-I-6 (T->C); the Portuguese type
IVS-I-110 (G->A)
IVS-I-116 (T->G)
IVS-I-128 (T->G); TTAG^GCTG->TGAG^GCTG
IVS-I-130 (G->A); TTAG^GCTG->TTAA GCTG
IVS-I-130 (G->C); TTAG^GCTG->TTAC GCTG
Codon 30 (AGG->AGC) [IVS-I-130 (+1)]
IVS-I, 3' end; -17 bp
Codon 31 (-C); CTG->-TG
Codons 31/32 (+CGG)
Codon 32 (T->A) CTG->CAG; codon 98 (G->A) GTG->ATG
Codons 33/34 (-GTG); GTG·GTC(Val-Val)->GTC·---(Val)
Codon 35 (C->A); TAC->TAA (Tyr->Term codon)
Codon 35 (-C); TAC(Tyr)->TA-
Codons 36/37 (-T); CCT·TGG(Pro-Trp)->CCT·-GG
Codon 37 (G->A); TGG(Trp)->TGA(stop codon)
Codons 37/38/39 (-7 nts)
Codons 38/39 (-C); ACC·CAG(Thr·Gln)->ACC·-AG
Codons 38/39 (-CC); ACC·CAG(Thr-Glu)->A--·CAG
Codon 39 (C->T); CAG(Gln)->TAG(stop codon)
Codon 40 (-G); AGG(Arg)->AG-
Codons 40/41 (+T); AGG·TTC(Arg-Phe)->AGG·T·TTC
Codon 41 (-C); TTC(Phe)->TT-
Codons 41/42 (-TTCT); TTC·TTT(Phe-Phe)->--- -TT
Codons 42/43 (+G); TTT·GAG(Phe·Glu)->TTT·G·GAG
Codons 42/43 (+T) TTT·GAG(Phe·Glu)->TTT·TGA·G(Phe;stop codon)
Codon 43 (G->T); GAG(Glu)->TAG (stop codon)
Codon 44 (-C); TCC(Ser)->TC-
Codon 45 (-T); TTT(Phe)->-TT
Codon 47 (+A); GAT(Asp)->GAA(Glu)·T
Codons 47/48 (+ATCT); GAT·CTG(Asp-Leu)->GAT·CTATCTG
Codon 51 (-C); CCT(Pro)->-CT
53/54 (+G); GCT·GTT(Ala-Val)->GCT·G·GTT
Codon 54 (-T); GTT(Val)->GT-
Codons 54/55 (+A); GTT·ATG(Val·Met)->GTT·A·ATG
Codons 56/57/58/59/60 (GGC·AAC·CCT·AAG·GTG); duplication of 14 bp
Codons 57/58 (+C); AAC·CCT(Asn·Pro)->AAC·C·CCT
Codon 59 (-A); AAG(Lys)->-AG
Codon 60 (T->A); GTG(Val)->GAG(Glu)
Codon 61 (A->T); AAG(Lys)->TAG(stop codon)
Codon 64 (-G); GGC(Gly)->-GC
Codon 67 (-TG); GTG(Val)->--G
Codons 71/72 (+A); TTT·AGT(Phe·Ser)->TTT·A·AGT
Codons 71/72 (+T); TTT·AGT(Phe·Ser)->TTT·T·AGT
Codons 72/73; -AGTGA, +T; AGT·GAT(Ser-Asp)->--- -TT
Codons 74/75 (-C); GGC·CTG(Gly·Leu)->GG-·CTG
Codon 76 (-C); GCT(Ala)->G-T
Codons 82/83 (-G); AAG·GGC(Lys·Gly)->AAG·-GC
Codons 84/85 (+C); ACC·TTT(Thr·Phe)->ACC·C·TTT
Codons 84/85/86 (+T); ACC·TTT·GCC(Thr·Phe·Ala)->ACC·TTT·T·GCC
Codon 88 (+T); CTG(Leu)->CTTG
Codons 89/90 (-GT); AGT·GAG(Ser·Glu)->A--·GAG
Codon 90 (G->T); GAG(Glu)->TAG(stop codon)
Codon 94 (+TG); GAC(Asp)->GTGAC
Codon 95 (+A); AAG(Lys)->AAAG
Codon 100; -CTT, +TCTGAGAACTT
IVS-II-1 (G->A);
IVS-II-1 (G->C);
IVS-II-2,3 (+11, -2); insertion of 11 bp (5'-ACGTTCT CTGA-3') and deletion of GA (nts 2 and 3 of IVS-II) between positions 1 and 4 of IVS-II
IVS-II-4,5 (-AG);
IVS-II-5 (G->C)
IVS-II-654 (C->T); AAGGCAATA->AAG^GTAATA
IVS-II-705 (T->G); GATGTAAGA->GAG^GTAAGA
IVS-II-745 (C->G); CAGCTACCAT->CAG^GTACCAT
IVS-II-837 (T->G);
IVS-II-843 (T->G);
IVS-II-844 (C->G);
IVS-II-848 (C->A);
IVS-II-848 (C->G);
IVS-II-849 (A->C);
IVS-II-849 (A->G);
IVS-II-850 (-G);
IVS-II-850 (G->A);
IVS-II-850 (G->C);
IVS-II-850 (G->T);
Codons 106/107 (+G); CTG·GGC(Leu·Gly)->CTG·G·GC
Codons 108/109/110/111/112 (-12 bp);
Codon 109 (-G); GTG(Val)->-TG
Codon 110 (T->C); CTG(Leu)->CCG(Pro)
Codon 112 (T->A); TGT(Cys)->TGA(stop codon)
Codon 114 (T->C); CTG(Leu)->CCG(Pro)
Codon 114 (-CT; +G); CTG(Leu)->-GG
Codon 115 (C->A); GCC(Ala)->GAC(Asp)
Codons 120/121 (+A); AAA·GAA(Lys-Glu)->AAA·A·GAA
Codon 121 (G->T); GAA(Glu)->TAA(stop codon)
Codon 123 (-A); ACC(Thr)->-CC
Codons 123/124/125 (-ACCCCACC); ACC·CCA·CCA(Thr·Pro·Pro)->--- --- --A
Codon 124 (-A); CCA(Pro)->CC-
Codon 125 (-A); CCA(Pro)->CC-
Codons 124/125/126 (+CCA); CCA·CCA·GTG(Pro·Pro·Val)->CCA·CCA·CCA·GTG(Pro·Pro·Pro·Val)
Codon 126 (-T); GTG(Val)->G-G
Codon 126 (T->G); GTG(Val)->GGG(Gly)
Codons 126-131 (Val-Gln-Ala-Ala-Thr-Gln) (-17 bp); GTG·CAG·GCT·GCC·TAT·CAG->G
Codon 127 (A->C); CAG(Gln)->CCG(Pro)
Codon 127 (A->G); CAG(Gln)->CGG(Arg)
Codon 127 (C->T); CAG(Gln)->TAG(stop codon)
Codons 127/128 (-AGG); CAG·GCT(Gln·Ala)->C-- -CT(Pro)
Codons 128/129 (-4 bp, -GCTG; +5 bp, +CCACA)
Codons 132-135 (-11 bp, -AAAGTGGTGGC)
Codons 134/135/136/137 [-(G)TGGCTGGTGT(G) and +(G)GCAG(G)]; GTG·GCT·GGT·GTG(Val-Ala-Gly-Val)->GGC·AGG(Gly-Arg)
+1480 (C->G); also known as 3' terminating codon +6 (C->G)
3'UTR (-GCATCTGGATTCT) 13 bp deletion between positions +1565 to +1577 (the numbers are relative to the Cap site)
T->C; 12 nts 5' to the poly A site or +1570 (the number is relative to the Cap site)
Poly A (T->C); AATAAA->AACAAA
Poly A (A->G); AATAAA->AATGAA
Poly A (A->G); AATAAA->AATAGA
Poly A (A->G); AATAAA->AATAAG
Poly A (-AT or -TA); AATAAA->A--AAA
Poly A (-AATAA); AATAAA->-----A