Table 1 Frequency of DCV types across functional domains of BMPR1a
From: Genotype–phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome
Missense | Nonsense | Frameshift | Large Deletion | Total | % Total | |
|---|---|---|---|---|---|---|
Promoter | - | - | - | - | 5 | 2.37% |
Intron | - | - | - | - | 28 | 13.23% |
Signal Peptide | 5 | 3 | 3 | 1 | 13 | 6.16% |
MH1 Domain | 15 | 14 | 33 | 0 | 62 | 29.38% |
Cysteine Rich Domain | 14 | 6 | 18 | 0 | 38 | |
Transmembrane Domain | 1 | 1 | 1 | 0 | 3 | 1.42% |
Intracellular Domain | 17 | 33 | 45 | 4 | 99 | 46.92% |
Protein Kinase Domain | 17 | 27 | 38 | 4 | 86 | |
ATP Binding Domain | 0 | 3 | 2 | 0 | 5 | |
Whole Gene Deletion | 1 | 1 | 0.47% | |||
Total | 38 | 51 | 82 | 6 | 211 | |
% Total | 18.01% | 24.17% | 38.86% | 2.80% |