TABLE 1.
Mutations in the coding sequence of COL1A1 and COL1A2 associated with DGI-I.
| Gene | Location | cDNA | Protein | Mutation class | Enamel affected | DEJ affected | References |
|---|---|---|---|---|---|---|---|
| COL1A1 | Exon 5 | c.458dupC | p.(Gly154TrpfsX15) | Frameshift | - | - | Andersson et al. (2017) |
| COL1A1 | Exon 5 | c.440_441insT; c.441_442insA | - | Insertion | No obvious changes | Wider | Duan et al. (2016) |
| COL1A1 | Exon 6 | c.484C>T | p.(Gln162X) | Nonsense | - | - | Zhang et al. (2016) |
| COL1A1 | Exon 7 | c.573_574delCCinsG | p.(Pro193LeufsX72) | Frameshift | - | - | Zhang et al. (2016) |
| COL1A1 | Exon 7 | c.579delT | p.(Gly194ValfsX71) | Frameshift | - | - | Andersson et al. (2017) |
| COL1A1 | Exon 8 | c.589G>T | p.(Gly197Cys) | Missense | - | - | Andersson et al. (2017) |
| COL1A1 | Exon 8 | c.643-2A>G | Splice-2A>G | Splice site | - | - | Zhang et al. (2016) |
| COL1A1 | Exon 11 | c.752G>A | p.(Gly251Asp) | Missense | - | - | Andersson et al. (2017) |
| COL1A1 | Exon 11 | c.757C>T | p.(Arg253X) | Nonsense | - | - | Zhang et al. (2016) |
| COL1A1 | Exon 11 | c.769G>A | p.(Gly257Arg) | Missense | - | - | Zhang et al. (2016) |
| COL1A1 | Exon 12 | c.851G>C | p.(Gly284Ala) | Missense | - | - | Andersson et al. (2017) |
| COL1A1 | Exon 15 | c.972_978dup | p.(Ala327X) | Nonsense | - | - | Andersson et al. (2017) |
| COL1A1 | Exon 15 | c.977G>A | p.(Gly326Asp) | Missense | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A1 | Exon 15 | c.994G>A | p.(Gly332Arg) | Missense | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A1 | Exon 17 | c.1057G>A | p.(Gly353Ser) | Missense | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A1 | Exon 17 | c.1121G>C | P.(Gly374Ala) | Missense | - | - | Zhang et al. (2016) |
| COL1A1 | Exon 17 | c.1127dupC | p.(Gly377TrpfsX15) | Frameshift | - | - | Andersson et al. (2017) |
| COL1A1 | Exon 19 | c.1201G>A | p.(Gly401Ser) | Missense | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A1 | Exon 19 | c.1292delG | p.(Gly431ValfsX110) | Frameshift | - | - | Andersson et al. (2017) |
| COL1A1 | Exon 22 | c.1463G>C | p.(Gly488Ala) | Missense | No obvious changes | - | Zeng et al. (2021) |
| COL1A1 | Exon 23 | c.1522G>A | p.(Ala508Thr) | Missense | - | - | Zhang et al. (2016) |
| COL1A1 | Exon 23 | c.1588G>A | p.(Gly530Ser) | Missense | - | - | Zhang et al. (2016) |
| COL1A1 | Exon 25 | c.1678G>T | p.(Gly560Cys) | Missense | - | - | Zhang et al. (2016) |
| COL1A1 | Exon 25 | c.1678G>A | p.(Gly560Ser) | Missense | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A1 | Intron 26 | c.1821 + 1G>A | Splice+1G>A | Splice site | - | - | Andersson et al. (2017) |
| COL1A1 | Exon 28 | c.1930-2A>C | Splice-2A>C | Splice site | - | - | Zhang et al. (2016) |
| COL1A1 | Exon 31 | c.2075G>C | p.(Gly692Ala) | Missense | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A1 | Exon 31 | c.2089C>T | p.(Arg697X) | Nonsense | - | - | Andersson et al. (2017) |
| COL1A1 | Exon 31 | c.2110G>T | p.(Gly704Cys) | Missense | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A1 | Exon 32 | c.2155G>A | p.(Gly719Ser) | Missense | - | - | Andersson et al. (2017) |
| COL1A1 | Intron 32 | c.2235 + 1G>A | Splice+1G>A | Splice site | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A1 | Exon 33_34 | c.2297C>G | p.(Thr766Ser) | Missense | - | - | Zhang et al. (2016) |
| COL1A1 | Exon 33_34 | c.2299G>A | p.(Gly767Ser) | Missense | - | - | Zhang et al. (2016) |
| COL1A1 | Exon 33_34 | c.2335G>A | p.(Gly779Ser) | Missense | - | - | Andersson et al. (2017) |
| COL1A1 | Exon 36 | c.2450delC | p.(Pro817LeufsX291) | Frameshift | - | - | Zhang et al. (2016) |
| COL1A1 | Exon 37 | c.2461G>A | p.(Gly821Ser) | Missense | - | - | Zhang et al. (2016), Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A1 | Exon 37 | c.2515G>A | p.(Gly839Ser) | Missense | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A1 | Exon 37 | c.2525delG | p.(Gly842AlafsX266) | Frameshift | - | - | Andersson et al. (2017) |
| COL1A1 | Exon 38 | c.2596G>A | p.(Gly866Ser) | Missense | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A1 | Exon 41 | c.2867G>C | p.(Gly956Ala) | Missense | - | - | Zhang et al. (2016) |
| COL1A1 | Exon 42 | c.3026delC | p.(Pro1009LeufsX99) | Frameshift | - | - | Andersson et al. (2017) |
| COL1A1 | Exon 44 | c.3118G>A | p.(Gly1040Ser) | Missense | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A1 | Intron 44 | c.3208-6C>T | Splice-6C>T | Splice site | - | - | Andersson et al. (2017) |
| COL1A1 | Exon 45 | c.3226G>A | p.(Gly1076Ser) | Missense | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A1 | Exon 45 | c.3235G>A | p.(Gly1079Ser) | Missense | - | - | Andersson et al. (2017) |
| COL1A1 | Intron 3 | c.333 + 2T>C | Splice+2T>C | Splice site | - | - | Andersson et al. (2017) |
| COL1A1 | Intron 47 | c.3424-6C>G | Splice-5G>C | Splice site | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A1 | Exon 48 | c.3505G>A | p.(Gly1169Ser) | Missense | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A1 | Exon 49 | c.3567delT | p.(Gly1190ValfsX49) | Frameshift | - | - | Andersson et al. (2017) |
| COL1A1 | Exon 49 | c.3790A>G | p.(Met1264Val; Met1264GlufsX59) | Frameshift | - | - | Andersson et al. (2017) |
| COL1A1 | Exon 50 | c.3815G>T | p.(Gly1272Val) | Missense | - | - | Andersson et al. (2017) |
| COL1A1 | Exon 52 | c.4386delC | p.(Phe1463SerfsX63) | Frameshift | - | - | Andersson et al. (2017) |
| COL1A2 | Exon 1 | c.12T>G | p.(Phe4Leu) | Missense | - | - | Zhang et al. (2016) |
| COL1A2 | Exon 16 | c.752C>T | p.(Ser251Phe) | Missense | Reduced elastic modulus | Irregular | Intarak et al. (2021) |
| COL1A2 | Exon 16 | c.758G>T | p.(Gly253Val) | Missense | Reduced elastic modulus | Irregular | Intarak et al. (2021) |
| COL1A2 | Exon 17 | c.793G>C | p.(Gly265Arg) | Missense | - | - | Andersson et al. (2017) |
| COL1A2 | Exon 17 | c.794G>A | p.(Gly265Asp) | Missense | - | - | Andersson et al. (2017) |
| COL1A2 | Exon 17 | c.795G>A | p.(Gly265Arg) | Missense | - | - | Malmgren et al. (2017) |
| COL1A2 | Exon 17 | c.812G>A | p.(Gly271Asp) | Missense | - | - | Zhang et al. (2016) |
| COL1A2 | Exon 17 | c.856G>A | p.(Gly286Ser) | Missense | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A2 | Exon 19 | c.992G>A | p.(Gly331Asp) | Missense | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A2 | Exon 19 | c.1009G>A | p.(Gly337Ser) | Missense | - | - | Zhang et al. (2016), Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A2 | Exon 21 | c.1162G>C | p.(Gly388Arg) | Missense | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A2 | Exon 21 | c.1171G>A | p.(Gly391Ser) | Missense | Glass-like appearance | - | Andersson et al. (2017), Malmgren et al. (2017), Lee et al. (2021), Kantaputra et al. (2018a) |
| COL1A2 | Intron 21 | c.1197 + 5G>A | Splice+5G>A | Splice site | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A2 | Exon 23 | c.1268G>A | p.(Arg423His) | Missense | - | - | Andersson et al. (2017) |
| COL1A2 | Exon 25 | c.1406G>C | p.(Gly469Ala) | Missense | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A2 | Exon 25 | c.1451G>A | p.(Gly484Glu) | Missense | - | - | Kantaputra et al. (2018b) |
| COL1A2 | Exon 26 | c.1531G>T | p.(Gly511Cys) | Missense | No obvious changes | - | Nutchoey et al. (2021) |
| COL1A2 | Exon 31 | c.1801G>A | p.(Gly601Ser) | Missense | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A2 | Exon 32 | c.1937G>T | p.(Gly646Val) | Missense | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A2 | Exon 34 | c.2027G>T | p.(Gly676Val) | Missense | No obvious changes | - | Nutchoey et al. (2021) |
| COL1A2 | Exon 34 | c.2081G>A | p.(Gly694Asp) | Missense | - | - | Zhang et al. (2016) |
| COL1A2 | Intron 43 | c.2835 + 1G>A | Splice+1G>A | Splice site | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A2 | Exon 44 | c.2918G>T | p.(Gly973Val) | Missense | - | - | Andersson et al. (2017) |
| COL1A2 | Exon 46 | c.3008G>A | p.(Gly1003Asp) | Missense | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A2 | Exon 46 | c.3034G>A | p.(Gly1012Ser) | Missense | - | - | Andersson et al. (2017) |
| COL1A2 | Exon 46 | c.3089G>C | p.(Gly1030Ala) | Missense | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A2 | Exon 47 | c.3106G>C | p.(Gly1036Arg) | Missense | - | - | Andersson et al. (2017), Malmgren et al. (2017) |
| COL1A2 | Exon 48 | c.3197G>T | p.(Gly1066Val) | Missense | - | - | Zhang et al. (2016) |
| COL1A2 | Exon 48 | c.3233G>A | p.(Gly1078Asp) | Missense | - | - | Lee et al. (2021) |
| COL1A2 | Exon 49 | c.3296G>A | p.(Gly1099Glu) | Missense | Enamel pits and grooves | Irregular | Budsamongkol et al. (2019) |
(“-” refers to not mentioned in the corresponding literature).