Table 1.
Intragenic mutations in SMN1 that have been identified in SMA patients. The nucleotide position for the mutation starts relative to the initiation codon for DNA (NM_022874.2) or amino acid for protein (NP_075012.1).
| Type of Mutation | Mutation | Phenotype | Reference(s) |
|---|---|---|---|
| Nonsense mutations | p.E14X | I | [127,155] |
| p.Q15X | I, II, III | [127,144,155,156] | |
| p.Q27X | I | [157] | |
| p.S63X | I | [157] | |
| p.W102X | II, III | [158,159] | |
| p.Q154X | III | [160] | |
| p.Q157X | II | [160,161] | |
| p.W190X | I | [162] | |
| p.L228X | I | [127,155,163,164] | |
| p.Q282X | I | [165] | |
| p.R288X | II | [166] | |
| Frameshift mutations | c.-7-9del | III | [127] |
| c.19delG | I | [164] | |
| c.22dupA | I, II, III | [127,155,163,164,167,168] | |
| c.48_55dupGGATTCCG | I | [87] | |
| c.56delT | II | [127,155,168] | |
| c.81+1dupG | II | [169,170] | |
| c.90_91insT | I, II | [144,162] | |
| c.98delT | I | [170] | |
| c.100delT | N/A | [171] | |
| c.109dupA | N/A | [158] | |
| c.124insT | I | [144] | |
| c.198_214del | N/A | [172] | |
| c.208_209ins4 | III | [144] | |
| c.241-242in4 | III | [144] | |
| c.286delG | I | [166] | |
| c.312dupA | III | [162] | |
| c.314_317dup | III | [172] | |
| c.401_402delAG | I | [164] | |
| c.411delT | I | [162] | |
| c.429_435del | I | [171] | |
| c.430del4 | I, II, III | [173] | |
| c.431delC | I | [171] | |
| c.439_443del | I | [159,174] | |
| c.472del5 | I | [174] | |
| c.509_510delGT | N/A | [158] | |
| c.524delC | N/A | [175] | |
| c.542delGT | II | [176,177] | |
| c.549delC | N/A | [178] | |
| c.551_552insA | I | [164] | |
| c.585dupT | I | [172] | |
| c.591delA | II | [144] | |
| c.627_628ins65 | I | [161] | |
| c.722delC | I | [171] | |
| c.734_735insC | I | [160,175] | |
| c.735_736insA | N/A | [178] | |
| c.740dupC | N/A | [179] | |
| c.744delC | I | [127] | |
| c.770-780dup11 | I | [158,160,162,172,175] | |
| c.773insC | III | [179] | |
| c.811_814dupGGCT | II | [127] | |
| c.813ins/dup11 | I, II | [176,179,180] | |
| c.819_820insT | I | [157,181,182] | |
| Missense mutations | p.A2G | II, III | [127,155,158,160,176] |
| p.A2V | III | [129,157,182] | |
| p.D30N | II | [156] | |
| p.D44V | III | [156] | |
| p.W92S | I | [157,181,182,183] | |
| p.V94F | I | [184] | |
| p.V94G | II | [172] | |
| p.G95R | III | [156,178] | |
| p.Y109C | III | [127] | |
| p.A111G | I | [156] | |
| p.I116F | I | [160,175,185] | |
| p.Y130C | III | [158,186] | |
| p.Y130H | III | [186] | |
| p.E134K | I, II | [127,156,168,187] | |
| p.Q136E | I | [185] | |
| p.S139S | N/A | [158,159] | |
| p.L141P | I | [157] | |
| p.D181G | N/A | [188] | |
| p.A188S | I | [170] | |
| p.P221L | I | [87] | |
| p.S230L | II, III | [127,165,168,171] | |
| p.P244L | III | [171] | |
| p.P245L | III | [189] | |
| p.L260S | II | [172] | |
| p.S262G | III | [156] | |
| p.S262I | III | [65,158,190] | |
| p.M263R | I | [172] | |
| p.M263T | II | [162] | |
| p.S266P | II | [158] | |
| p.M269T | III | [160] | |
| p.Y272C | I, II, III | [144,156,162,164,170,172,189,191] | |
| p.H273R | II | [158] | |
| p.T274I | II, III | [71,144,170,190] | |
| p.G275S | III | [172] | |
| p.Y276H | I | [157,192] | |
| p.Y277C | II, III | [127,129,168,182] | |
| p.G279C | II, III | [178,193] | |
| p.G279V | I | [194] | |
| p.G279D | N/A | [143] | |
| p.F280I | N/A | [178] | |
| p.R288M | I, II | [168,195,196] | |
| Splice-site mutations | c.*3+3A>T | I | [184] |
| c.628-140A>G | N/A | [161] | |
| c.834+2T>G | I | [162] | |
| c.835-1G>A | III | [197] | |
| c.835-2A>G | I | [157,198] | |
| c.835-3C>A | I | [157] | |
| c.835-5T>G | I | [127] | |
| c.867+2T>G | I | [179] | |
| c.868-11del7 | I | [37] | |
| c.888+3delAGAG | I | [37,172] | |
| c.922+3del4 | I | [97] | |
| c.922+6T>G | III | [144] |