Table 1. Germline LZTR1 variants in schwannomatosis families.
LZTR1a | |||||
---|---|---|---|---|---|
Family | Sample | Inheritance | Affected | Variant | Effect |
3701 | De novo | Yes | c.212A>G | p.(His71Arg) | |
422 | I:2 | No | c.243T>G | p.(Tyr81*) | |
II:1 | De novo | Yes | c.243T>G | p.(Tyr81*) | |
467b | I:1 | No | c.352dupC | p.(Arg118Profs*28) | |
II:1 | De novo | Yes | c.352dupC | p.(Arg118Profs*28) | |
318 | De novo | Yes | c.373_375delGTC | p.(Val125del) | |
302 | De novo | Yes | c.513delG | p.(Leu171Phefs*29) | |
268 | De novo | Yes | c.555_556dupCA | p.(Lys186Thrfs*15) | |
244 | De novo | Yes | c.560T>G | p.(Leu187Arg) | |
288 | De novo | Yes | c.628C>T | p.(Arg210*) | |
3857b | II:1 | Familial | Yes | c.791+1G>A | r.spl? |
II:2 | Familial | Yes | c.791+1G>A | r.spl? | |
388 | De novo | Yes | c.850C>T | p.(Arg284Cys) | |
325 | De novo | Yes | c.1018C>T | p.(Arg340*) | |
476 | De novo | Yes | c.1199T>G | p.(Met400Arg) | |
176b | I:1 | De novo | Yes | c.1373dupG | p.(His459Profs*210) |
II:1 | Familial | Yes | c.1373dupG | p.(His459Profs*210) | |
183 | De novo | Yes | c.1394C>A | p.(Ala465Glu) | |
389 | De novo | Yes | c.1486delG | p.(Ala496Profs*60) | |
307b | I:1 | No | c.1602delA | p.(Lys534Asnfs*22) | |
II:1 | Familial | Yes | Wild type | ||
II:2 | Familial | Yes | c.1602delA | p.(Lys534Asnfs*22) | |
174 | De novo | Yes | c.1779delA | p.(Gln593Hisfs*7) | |
148 | I:1 | No | c.1807delG | p.(Val603*) | |
II:1 | De novo | Yes | c.1807delG | p.(Val603*) | |
504 | De novo | Yes | c.2089C>T | p.(Arg697Trp) | |
408 | I:1 | No | c.2278T>C | p.(Cys760Arg) | |
II:1 | De novo | Yes | c.2278T>C | p.(Cys760Arg) | |
259 | De novo | Yes | c.2284C>T | p.(Gln762*) | |
381 | De novo | Yes | c.2487dupA | p.(Asp830Argfs*21) |
Reference LZTR1 sequence: NM_006767.3. Nucleotide numbering starts with the A of the ATG translation initiation codon as +1.
Variants identified by exome sequencing.