Mutation | Exon | Protein domain | Type of mutation | Origin | Predicted effect of mutation | Functional analysis | ||||
Genomic | Protein | MutPred | SNPs&Go | Polyphen2 | SIFT | |||||
c.1117T→C | p.Cys373Arg | 7 | EGF 9 | Missense | Paternal | 0.873 | Damaging | Damaging | Damaging | Damaging |
c.1147C→T | p.Pro383Ser | 7 | EGF 10 | Missense | Maternal | 0.694 | Damaging | Damaging | Damaging | Damaging |
c.1180C→T | p.Pro394Ser | 7 | EGF 10 | Missense | Unknown | 0.611 | Damaging | Damaging | Benign | Not tested |
c.1331G→A* | p.Cys444Tyr | 8 | EGF 11 | Missense | Maternal | 0.999 | Damaging | Damaging | Damaging | Damaging |
c.1438T→C | p.Cys480Arg | 9 | EGF 10 | Missense | Unknown | 0.99 | Damaging | Damaging | Damaging | Not tested |
c.2043T→A† | p.Ile681Asn | 13 | EGF 17/18 | Missense | Unknown | 0.519 | Damaging | Damaging | Benign | Not tested |
c.2566_2567delAG | p.Ser855fs | 16 | EGF 22 | Frameshift | Maternal | N/A | N/A | N/A | N/A | Not tested |
c.5857C→T | p.Arg1953Cys | 32 | ANK 4 | Missense | Unknown | 0.588 | Damaging | Damaging | Damaging | Damaging |
c.5858G→A† | p.Arg1953His | 32 | ANK 4 | Missense | Unknown | 0.591 | Benign | Damaging | Damaging | Not tested |
c.6007C→T | p.Arg2003X | 33 | ANK 5 | Non-sense | De novo | N/A | N/A | N/A | N/A | Damaging |
c.5930-1G→A* | N/A | 33 | ANK 5 | Splice site alteration | Maternal | N/A | N/A | N/A | N/A | Damaging |
MutPred score, probability of deleterious or disease associated mutation. MutPred: Li B, Krishnan VG, Mort ME, Xin F, Kamati KK, Cooper DN, Mooney SD, Radivojac P. Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics 2009;25:2744–50. http://mutpred.mutdb.org/
SNPs&Go: Calabrese R, Capriotti E, Fariselli P, Martelli PL, Casadio R. Functional annotations improve the predictive score of human disease-related mutations in proteins. Hum Mutat 2009;30:1237–44. http://snps-and-go.biocomp.unibo.it/snps-and-go/index.html
Polyphen: Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. Nat Methods 2010;7:248–9. http://genetics.bwh.harvard.edu/pph2/
SIFT: Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009;4:1073–81. http://sift.jcvi.org/
↵* Previously reported mutations.
↵† Both changes from patient 7.