Table 2 The 30 most frequent mutations in SMA patients
From: High-throughput screening reveals novel mutations in spinal muscular atrophy patients
| Gene | Position | MapLoc | MT | ExID | Function | cHGVS | AAChange | dbSNP | Frequency |
|---|---|---|---|---|---|---|---|---|---|
| SPTA1 | 158,656,347 | 1q23.1 | ins | EX1 | utr-5 | c.[−41_-40insCTCT] | NA | rs111674514 | 95%(19/20) |
| FUT5 | 5,866,736 | 19p13.3 | snv | EX2E | missense | c.[1001A > G] | p.[His334Arg] | rs778984 | 85%(17/20) |
| MCCC2 | 70,883,136 | 5q13.2 | snv | EX1 | utr-5 | c.[−117A > G] | NA | rs11746722 | 75%(15/20) |
| ARL14EP | 30,352,473 | 11p14.1 | ins | EX2 | utr-5 | c.[−23_-22insAG] | NA | rs75725983 | 70%(14/20) |
| GNS | 65,146,532 | 12q14.3 | snv | EX2 | coding-synon | c.[198G > A] | NA | rs1147096 | 65%(13/20) |
| COL3A1 | 189,864,080 | 2q32.2 | snv | EX30 | missense | c.[2092G > A] | p.[Ala698Thr] | rs1800255 | 65%(13/20) |
| HSPD1 | 198,363,504 | 2q33.1 | snv | EX2 | coding-synon | c.[69 T > C] | NA | rs1050347 | 65%(13/20) |
| SREBF1 | 17,714,719 | 17p11.2 | del | EX20E | utr-3 | c.[1217_1218delTT] | NA | NA | 60%(12/20) |
| CYP2A6 | 41,355,849 | 19q13.2 | snv | EX2 | coding-synon | c.[217 T > C] | NA | rs2302990 | 60%(12/20) |
| SDHAP1 | 195,710,975 | 3q29 | snv | IVS5 | unknown | n.[750 + 8C > T] | NA | NA | 60%(12/20) |
| LHX4 | 180,199,727 | 1q25.2 | snv | EX1 | coding-synon | c.[63 T > C] | NA | rs75857235 | 55%(11/20) |
| RGPD8 | 113,147,159 | 2q13 | snv | EX20 | coding-synon | c.[3363C > T] | NA | rs62157473 | 55%(11/20) |
| PROM1 | 16,020,162 | 4p15.32 | snv | EX8 | coding-synon | c.[786G > A] | NA | rs2286455 | 55%(11/20) |
| HLA-DQB2 | 32,726,838 | 6p21.32 | snv | EX3 | coding-synon | c.[435G > A] | NA | rs17850863 | 55%(11/20) |
| ERCC6 | 50,666,808 | 10q11.23 | snv | EX21E | utr-3 | c.[*53 T > C] | NA | rs4253231 | 50%(10/20) |
| NOTCH2 | 120,612,004 | 1p11.2 | del | EX1 | frameshift | c.[17_18delCC] | p.[Pro6Arg] | NA | 50%(10/20) |
| GORAB | 170,521,650 | 1q24.2 | snv | EX5E | utr-3 | c.[*47 T > G] | NA | rs7552922 | 50%(10/20) |
| DYNC1H1 | 102,493,761 | 14q32.31 | snv | EX46 | coding-synon | c.[8928A > G] | NA | rs8010870 | 50%(10/20) |
| ACSF3 | 89,167,138 | 16q24.3 | snv | EX3 | missense | c.[49G > C] | p.[Ala17Pro] | rs11547019 | 50%(10/20) |
| MYO5B | 47,429,022 | 18q21.1 | snv | EX21 | missense | c.[2753G > A] | p.[Arg918His] | rs2298624 | 50%(10/20) |
| MYO5B | 47,500,836 | 18q21.1 | snv | EX10 | coding-synon | c.[1206C > T] | NA | rs11082795 | 50%(10/20) |
| BCL10 | 85,742,157 | 1p22.3 | snv | EX1 | utr-5 | c.[−122C > G] | NA | rs1060843 | 50%(10/20) |
| CGB5 | 49,547,446 | 19q13.33 | snv | EX1 | utr-5 | c.[−21G > C] | NA | rs35014217 | 50%(10/20) |
| SNRNP200 | 96,952,833 | 2q11.2 | snv | EX27 | coding-synon | c.[3550 T > C] | NA | rs3171927 | 50%(10/20) |
| NR3C2 | 149,002,017 | 4q31.23 | del | EX9E | utr-3 | c.[478delA]] | NA | rs10708334 | 50%(10/20) |
| GRM1 | 146,755,560 | 6q24.3 | snv | EX9E | coding-synon | c.[3213 T > G] | NA | rs1047006 | 50%(10/20) |
| RP1L1 | 10,467,576 | 8p23.1 | snv | EX4E | coding-synon | c.[4032A > G] | NA | rs4840499 | 50%(10/20) |
| RP1L1 | 10,467,652 | 8p23.1 | snv | EX4E | missense | c.[3956C > G] | p.[Ala1319Gly] | rs4840501 | 50%(10/20) |
| CELP | 135,961,787 | 9q34.2 | snv | EX4 | ncRNA | n.[622A > G] | NA | rs10901232 | 50%(10/20) |
| CELP | 135,961,796 | 9q34.2 | snv | EX4 | ncRNA | n.[631C > T] | NA | rs10901233 | 50%(10/20) |