Table 1.
Detailed breakdown of ENG stop codon-generating mutations, by exon in which stop codon occurs (site of origin is indicated in fig. 2)
| Stop codon exon | Mutations |
|---|---|
| 1 | – |
| 2 | c.63delC (Thr22fs); c.90T>A (Cys30X); c.97C>T (Gln33X); c.121G>T (Glu41X); c.142C>T (Gln48X); c.159C>A (Cys53X); c.166C>T (Gln56X); c.107delG (Gly36fs); c.115delA (Arg39fsX42) |
| 3 | c.229C>T (Gln77X); c.247C>T (Gln83X); c.277C>T (Arg93X); c.360C>A (Tyr120X); c.277delC (Arg93fs) |
| 4 | c.214_215delCC (Pro72AsnfsX76); c.298_299delAG (Ser100CysfsX48); c.305delA (Asn102ThrfsX61); c.326_327delTC (Leu109fs); |
| c.332_338delCCCTGGG (Ala111fs); c.344delC (Pro115fs); c.447G>A (Trp149X); c.511C>T (Arg171X); c.392delC (Pro131fs); c.461delG (Gly154fsX162); c.472_472delCT (Ser158fsX160) | |
| 5 | c.496delC (Gln166fsX221); c.526C>T (Glu176X); c.587G>A (Trp196X); c.588G>A (Trp196X); c.574delC (ArgfsX221); c.617delG (Gly206Alafs); c.640_644delGGCC (Gly214fs); c.644delA (His215fs); c.647delA (Lys216fs); c.604_607delinsCCC (Ala202ProfsX20); c.586_604delTGGCGGCC (p.Trp196fs …) |
| 6 | c.715G>T (Glu239X); c.782G>A (Trp261X); c.704delC (Thr235fs) |
| 7 | c.537_538delGT (Ser180fs); c.591_619del29 (Pro198fsX125); c.831C>G (Tyr277X); c.889C>T (Gln297X) |
| 8 | c.653insC (His219fs); c.657_658delCA (Ile220fsX332); c.682_686delTCGGC (Ser228fs); c.733delG (Gly245fs); c.736delG (Asp246fs); c.740delT (Asp248fs); c.771delC (Pro257fsX358); c.772delT (Tyr258fs); c.775delG (Val259fs); c.785_789delTCATC (Leu262fsX331); c.834_837delCTTC (Phe279fs); c.893delG (Gly298fsX358); c.967_968delGT (Val323fs); c.820_826delACTGGAGinsTTGAAGGTCTTTCCAGAGAAAAAC (Thr274fsX338); c.1010C>G (Ser337X); c.1050T>A (Cys350X); c.1078C>T (Gln360X); c.1123G>T (Glu375X); c.995delG(Gly332fsX358); c.1085delA (Lys362fs) |
| 9A | c.1089_1090delTG (Ala363fs394X); c.1097_1119del23(Asp366GlufsX22); c.1111_1133del23(Val371fs); c.1120_1123delAAAG (Lys374fs); c.1124_1125delAG (Leu375fs); c.1243C>T (Gln415X); c.1186delG (Ala396fsX420); c.1195delA (Arg399fs); c.1199delG (Gly400fsX420); c.1205delA (Lys402SerfsX19); c.1206delG (Leu402fs); c.1255delA (Ser419fs) |
| 9B | c.1292C>A (ser431X); c.1306C>T (Gln436X) |
| 10 | c.1365C>A (Tyr455X); c.1414C>T (Gln472X) |
| 11 | c.1268delA (Asn423fsX490); c.1310delG c.1334delT (Met445Argfs); c.1342_1343delCT (Ser449fsX490); c.1346_1347delCT (Ser449fsX499); c.1347_1350delTTTC (Phe450fs); c.1410delG (Gly470fsX490); c.1415_1417delAGA insGT (Gln472fsX490); c.1513G>T (Glu505X) c.1611C>A (Tyr537X) c.1678C>T (Gln560X); c.1684C>T (Gln562X) c.1432_1433delAG (Arg478fs); c.1472_1475delACAG (Asp491-AlafsX26); c.1478delG (Ser492fsX516); c.1479delC (His494fsX517); c.1526delG (Gly509fs); c.1550_1551delTG (Val517fsX525); c.1553_1554delGC (Ser518fs); c.1554_1555delCC (Leu519fs); c.1605_1627del23 (535fs); c.1609delT (Tyr537fsX551); c.1630delA(Thr544fs) |
| 12 | c.1655delC (Ala552fs); c.1657delC (Leu553fs); c.1672_1684delGGGTCT (Gln558fsX568); c.1689_1699delAGTCCA (Glu563fsX574); |
| 13 | c.1687delG (Glu563LysfsX10); c.1698delG (Arg566fs); c.1712delG (Arg571fs); c.1715T>A (Leu572X) |
| 14 | c.1733_1737delACCTG (Asp578fs) |
Note that the table excludes 2 reported frameshift mutations where the genomic DNA mutation translated inframe (c.993_1134del; c.887_918del32, 919_920insCAAGCTCCCAG); 2 reported intronic deletions in introns 4 and 7 (c.524_689del; c.992-25_1120del152); the 5'UTR-exon 1 deletion deleting the start codon; and c.1-?_67+?del; c.896del186; and c1350C>T which translate as no amino acid change.