Genetic data
| Mutation | Type of mutation | Predicted residual protein function | Phenotype | |
|---|---|---|---|---|
| c.211G>A (p.Glu71Lys) | Homozygous | Missense | Partial loss (hypomorphic) | IBD |
| c.1008C>G (p.Y336X)+c.1479delG (p.L493fsX13) | Compound heterozygous | Nonsense+ | None (loss of function) | HMIA |
| frameshift | ||||
| c.975G>A (p.R325Q) | Homozygous | Missense | Partial loss (hypomorphic) | IBD |
| c.313_316delTATC+c.1479delG (p.L493fsX13) | Compound heterozygous | Frameshift/premature stop + splice site | None (loss of function) | IBD |
| c.2356-1G>A | Homozygous | Canonical splice acceptor | None (loss of function) | HMIA |
| c.1373G>A (p.Cys458Tyr)+c.1433T>C (p.Leu478Pro) | Compound heterozygous | Missense + missense | Partial loss (hypomorphic) | IBD |
| c.1433T>C (p.L478P)+c.2495C>T (p.A832V) | Compound heterozygous | Missense + missense | Partial loss (hypomorphic) | IBD |
| p.Ser539Leu+p.Ala839Thr | Compound heterozygous | Missense + missense | Partial loss (hypomorphic) | IBD |
| p.Gly173Val+p.Leu452Pro | Compound heterozygous | Missense + missense | Partial loss (hypomorphic) | IBD |
| c.295A>G (p.M99V) | Homozygous | Missense | Partial loss (hypomorphic) | HMIA |
| c.1190delCA | Homozygous | Frameshift | None (loss of function) | HMIA |
| c.192delT (p.Phe64Leufs*15) | Homozygous | Frameshift | None (loss of function) | HMIA |
| c.1073G>A (p.Arg358Gln) | Homozygous | Missense | Partial loss (hypomorphic) | HMIA |
| c.518G>A (p.Gly173Asp)+ | Compound heterozygous | Missense+ | Partial loss (hypomorphic)+ | HMIA |
| c.100_1001+2delAAGT+ | Frameshift/splice+ | None (loss of function)+ | ||
| c.2170C>A (p.Gln724Lys) | Missense | Partial loss (hypomorphic) | ||
| c.1001+3_1001+6del+ | Compound heterozygous | Splice region+ | Likely loss of function | HMIA |
| c.2470dup+ | Frameshift+ | None (loss of function) | ||
| c.1364C>A (p.Ala455Asp) | Missense | Partial loss (hypomorphic) | ||
| c.517+1G>C+c.2225-2A>G | Compound heterozygous | Splice site (donor) + splice site (acceptor) | None (loss of function) | HMIA |
| c.728C>A (p.Ala243Asp)+ | Compound heterozygous | Missense | Partial loss (hypomorphic) | HMIA |
| c.1480T>C (p.Gly494Cys) | ||||
| c.1027G>A (p.Gly343Ser)+ | Compound heterozygous | Missense | Partial loss (hypomorphic) | IBD |
| c.2405T>C (p.Ile802Thr) | ||||
| c.765_1065del (p.N256Qfs*7) | Homozygous | Frameshift | None (loss of function) | HMIA |
| c.185-517del + c.185-348del | Compound heterozygous | Intronic deletion | Partial loss (hypomorphic) | HMIA |
| c.1709A>G (p.His570Arg) | Homozygous | Missense | Partial loss (hypomorphic) | HMIA |
| c.189C>G (p.D63E)+ | Compound heterozygous | Missense+ | Partial loss (hypomorphic)+ | HMIA |
| c.412C>T (p.R138X) | Nonsense | None (loss of function) | ||
| c.1636C>T (p.Arg546Trp) | Homozygous | Missense | Partial loss (hypomorphic) | HMIA |
| c.1569-2A>G+ | Compound heterozygous | Spice site (acceptor) | None (loss of function)+ | HMIA |
| c.1571C>T (p.A524V) | Missense | Partial loss (hypomorphic) | ||
| p.Glu191fs+ | Compound heterozygous | Frameshift+ | None (loss of function)+ | HMIA |
| p.Ile854Phe | Missense | Partial loss (hypomorphic) | ||
| c.900C>G (p.Tyr300*)+ | Compound heterozygous | Nonsense+ | None (loss of function)+ | HMIA |
| c.1213C>T (p.Arg405Cys) | Missense | Partial loss (hypomorphic) | ||
| p.Glu71Lys+ | Compound heterozygous | Missense+ | Partial loss (hypomorphic)+ | HMIA |
| p.Glu96 | Nonsense | None (loss of function) | ||
| p.Gly45_Ala55del | Homozygous | In-frame deletion | Partial loss of function | HMIA |
| Mutation | Type of mutation | Predicted residual protein function | Phenotype | |
|---|---|---|---|---|
| c.211G>A (p.Glu71Lys) | Homozygous | Missense | Partial loss (hypomorphic) | IBD |
| c.1008C>G (p.Y336X)+c.1479delG (p.L493fsX13) | Compound heterozygous | Nonsense+ | None (loss of function) | HMIA |
| frameshift | ||||
| c.975G>A (p.R325Q) | Homozygous | Missense | Partial loss (hypomorphic) | IBD |
| c.313_316delTATC+c.1479delG (p.L493fsX13) | Compound heterozygous | Frameshift/premature stop + splice site | None (loss of function) | IBD |
| c.2356-1G>A | Homozygous | Canonical splice acceptor | None (loss of function) | HMIA |
| c.1373G>A (p.Cys458Tyr)+c.1433T>C (p.Leu478Pro) | Compound heterozygous | Missense + missense | Partial loss (hypomorphic) | IBD |
| c.1433T>C (p.L478P)+c.2495C>T (p.A832V) | Compound heterozygous | Missense + missense | Partial loss (hypomorphic) | IBD |
| p.Ser539Leu+p.Ala839Thr | Compound heterozygous | Missense + missense | Partial loss (hypomorphic) | IBD |
| p.Gly173Val+p.Leu452Pro | Compound heterozygous | Missense + missense | Partial loss (hypomorphic) | IBD |
| c.295A>G (p.M99V) | Homozygous | Missense | Partial loss (hypomorphic) | HMIA |
| c.1190delCA | Homozygous | Frameshift | None (loss of function) | HMIA |
| c.192delT (p.Phe64Leufs*15) | Homozygous | Frameshift | None (loss of function) | HMIA |
| c.1073G>A (p.Arg358Gln) | Homozygous | Missense | Partial loss (hypomorphic) | HMIA |
| c.518G>A (p.Gly173Asp)+ | Compound heterozygous | Missense+ | Partial loss (hypomorphic)+ | HMIA |
| c.100_1001+2delAAGT+ | Frameshift/splice+ | None (loss of function)+ | ||
| c.2170C>A (p.Gln724Lys) | Missense | Partial loss (hypomorphic) | ||
| c.1001+3_1001+6del+ | Compound heterozygous | Splice region+ | Likely loss of function | HMIA |
| c.2470dup+ | Frameshift+ | None (loss of function) | ||
| c.1364C>A (p.Ala455Asp) | Missense | Partial loss (hypomorphic) | ||
| c.517+1G>C+c.2225-2A>G | Compound heterozygous | Splice site (donor) + splice site (acceptor) | None (loss of function) | HMIA |
| c.728C>A (p.Ala243Asp)+ | Compound heterozygous | Missense | Partial loss (hypomorphic) | HMIA |
| c.1480T>C (p.Gly494Cys) | ||||
| c.1027G>A (p.Gly343Ser)+ | Compound heterozygous | Missense | Partial loss (hypomorphic) | IBD |
| c.2405T>C (p.Ile802Thr) | ||||
| c.765_1065del (p.N256Qfs*7) | Homozygous | Frameshift | None (loss of function) | HMIA |
| c.185-517del + c.185-348del | Compound heterozygous | Intronic deletion | Partial loss (hypomorphic) | HMIA |
| c.1709A>G (p.His570Arg) | Homozygous | Missense | Partial loss (hypomorphic) | HMIA |
| c.189C>G (p.D63E)+ | Compound heterozygous | Missense+ | Partial loss (hypomorphic)+ | HMIA |
| c.412C>T (p.R138X) | Nonsense | None (loss of function) | ||
| c.1636C>T (p.Arg546Trp) | Homozygous | Missense | Partial loss (hypomorphic) | HMIA |
| c.1569-2A>G+ | Compound heterozygous | Spice site (acceptor) | None (loss of function)+ | HMIA |
| c.1571C>T (p.A524V) | Missense | Partial loss (hypomorphic) | ||
| p.Glu191fs+ | Compound heterozygous | Frameshift+ | None (loss of function)+ | HMIA |
| p.Ile854Phe | Missense | Partial loss (hypomorphic) | ||
| c.900C>G (p.Tyr300*)+ | Compound heterozygous | Nonsense+ | None (loss of function)+ | HMIA |
| c.1213C>T (p.Arg405Cys) | Missense | Partial loss (hypomorphic) | ||
| p.Glu71Lys+ | Compound heterozygous | Missense+ | Partial loss (hypomorphic)+ | HMIA |
| p.Glu96 | Nonsense | None (loss of function) | ||
| p.Gly45_Ala55del | Homozygous | In-frame deletion | Partial loss of function | HMIA |
List of the identified mutations in our population of patients and correlation with the presented clinical phenotype. IBD, inflammatory bowel disease; HMIA, hereditary multiple intestinal atresia.
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