Table 1.
Mutations identified in siblings with CCMs (II-1 and II-2).
| Region | Nucleotide change (cDNA) | Amino acid change | Function | Domain | Mutation | Type | |
|---|---|---|---|---|---|---|---|
| CCM2 | Exon 2 | c.95 del C | p. A32A | Delection, Frameshift | N-terminal domain | Novel | Heterozygous |
| CCM2 | Exon 4 | c.358 G>A | p. V120I | Missense | PTB domain | Known (rs11552377) | Heterozygous |
| CCM2 | Exon 8 | c.915 G>A | p. T305T | Silent | C-terminal Karet domain | Known (rs2289367) | Heterozygous |
| CCM2 | 3′UTR (Exon 10) | c.*1452 T>C | Null | Unknown | Null | Known rs7804) | Heterozygous |
Genbank accession NM_031443.3 (CCM2 variant 2). The first nucleotide of ATG translation codon is considered nt +1. PTB, Phosphotyrosine-binding domain.