Gene | Mutation | Number of cases | No. of alleles | Reference | ExAC data base (allele frequency) | ||||
---|---|---|---|---|---|---|---|---|---|
Position | DNA | Protein/ mRNA | Type | Homo zygous | Hetero/ Hemi zygous | ||||
ASS1 | Exon 5 | c.190G > A | p.Val64Ile | Missense | 1 | 1 | 3 | Novel | 0.00003303 |
Exon 5 | c.269G > A | p.Gly90Asp | Missense | 1 | 0 | 2 | Novel | NA | |
Exon 5 | c.271A > C | p.Thr91Pro | Missense | 1 | 0 | 2 | Novel | 0.00003324 | |
Exon 5 | c.299G > A | p.Arg100His | Missense | 0 | 1 | 1 | [30] | 0.0001597 | |
Exon 5 | c.349G > T | p.Gly117Cys | Missense | 1 | 0 | 2 | [30] | NA | |
Exon 5 | c.350G > A | p.Gly117Asp | Missense | 0 | 1 | 1 | [36] | NA | |
Exon 6 | c.370G > A | p.Asp124Asn | Missense | 1 | 1 | 3 | [37] | NA | |
Exon 7 | c.470G > A | p.Arg157His | Missense | 12 | 1 | 25 | [38] | 0.00009932 | |
Exon 9 | c.570T > A | p.Tyr190Ter | PTC** | 0 | 1 | 1 | Novel | NA | |
Exon 12 | c.793C > T | p.Arg265Cys | Missense | 3 | 1 | 7 | [39] | 0.000008262 | |
Exon 12 | c.815G > A | p.Arg272His | Missense | 2 | 0 | 4 | [40] | NA | |
Exon 13 | c.910C > T | p.Arg304Trp | Missense | 2 | 0 | 4 | [38] | 0.00004119 | |
Exon 14 | c.970G > A | p.Gly324Ser | Missense | 1 | 0 | 2 | [38] | 0.00004952 | |
Exon 14 | c.1088G > A | p.Arg363Gln | Missense | 0 | 1 | 1 | [30] | 0.000008792 | |
Exon 15 | c.1139delA | p.Glu380Argfs*20 | Deletion sbp* | 2 | 1 | 5 | Novel | NA | |
Exon 15 | c.1168G > C | p.Gly390Arg | Missense | 23 | 1 | 47 | [38] | NA | |
Total | 50 | 10 | 110 | ||||||
ASL | Exon 3 | c.89_94delinsGTCGTA | p.Tyr30_Asp31delinsCysArg | DEL INS*** | 0 | 1 | 1 | Novel | NA |
Exon 5 | c.326C > G | p.Thr109Arg | Missense | 0 | 1 | 1 | Novel | NA | |
Exon 5 | c.337C > T | p.Arg113Trp | Missense | 1 | 0 | 2 | [16] | 0.00006783 | |
Exon 7 | c.509G > A | p.Ser170Asn | Missense | 0 | 2 | 2 | [41] | NA | |
Exon 8 | c.593C > T | p.Pro198Leu | Missense | 1 | 0 | 2 | Novel | NA | |
Exon 9 | c.637C > T | p.Arg213Ter | PTC | 0 | 3 | 3 | [42] | 0.000008417 | |
Exon 9 | c.649C > T | p.Arg217Ter | PTC | 1 | 0 | 2 | Novel | 0.000008443 | |
Exon 11 | c.733T > C | p.Trp245Arg | Missense | 0 | 1 | 1 | Novel | NA | |
Exon 11 | c.749T > A | p.Met250Lys | Missense | 0 | 1 | 1 | Novel | 0.00000854 | |
Exon 12 | c.857A > G | p.Gln286Arg | Missense | 2 | 1 | 5 | [43] | 0.00007499 | |
Exon 12 | c.913G > A | p.Gly305Arg | Missense | 0 | 1 | 1 | Novel | NA | |
Exon 12 | c.967A > G | p.Lys323Glu | Missense | 1 | 0 | 2 | Novel | NA | |
Exon 12 | c.978G > C | p.Gln326His | Missense | 0 | 1 | 1 | [41] | 0.00003771 | |
Exon 16 | c.1153C > T | p.Arg385Cys | Missense | 1 | 0 | 2 | [44] | 0.00006732 | |
Exon 17 | c.1297A > C | p.Ser433Arg | Missense | 0 | 2 | 2 | [41] | NA | |
Exon 17 | c.1300G > T | p.Val434Leu | Missense | 0 | 2 | 2 | [41] | 0.000008284 | |
Total | 7 | 16 | 30 | ||||||
OTC | Exon 1 | c.274C > T | p.Arg92Ter | PTC | 0 | 1 | 1 | [45] | NA |
Exon 1 | c.275G > A | p.Arg92Gln | Missense | 0 | 1 | 1 | [45] | NA | |
Exon 4 | c.386G > A | p.Arg129His | Missense | 0 | 3 | 3 | [32] | NA | |
Exon 5 | c.421C > T | p.Arg141Ter | PTC | 0 | 1 | 1 | [33] | NA | |
Exon 5 | c.535C > T | p.Leu179Phe | Missense | 0 | 1 | 1 | [46] | NA | |
Exon 6 | c.604C > T | p.His202Tyr | Missense | 0 | 1 | 1 | [47] | NA | |
Exon 7 | c.674C > T | p.Pro225Leu | Missense | 0 | 2 | 2 | [48] | NA | |
Exon 7–8 | c.773_790del | p.Asn258_263del | Deletion 18 bp | 0 | 1 | 1 | Novel | NA | |
Exon 8 | c.805G > A | p.Gly269Arg | Missense | 0 | 1 | 1 | Novel | NA | |
Exon 8 | c.829C > T | p.Arg277Trp | Missense | 0 | 1 | 1 | [49] | NA | |
Exon 8 | c.835C > T | p.Gln279Ter | PTC | 0 | 1 | 1 | [50] | NA | |
Exon1–10 | Whole gene deletion | Large deletion | 0 | 4 | 4 | [51] | NA | ||
Total | 0 | 18 | 18 | ||||||
ARG1 | Exon 1 | c.2 T > C | p.Met1? | Initiation codon | 1 | 0 | 2 | Novel | NA |
Exon 3 | c.132_146del | p.Gln44_Lys48del | Deletion 15 bp | 0 | 1 | 1 | Novel | NA | |
Exon 3 | c.295G > A | p.Gly99Arg | Missense | 0 | 1 | 1 | Novel | 0.00001658 | |
Exon 5 | c.551delC | p.Pro184Leufs*7 | PTC | 1 | 0 | 2 | Novel | NA | |
Intron 7 | c.802 + 2 T > G | Splice site | Splice site | 1 | 0 | 2 | Novel | NA | |
Exon 8 | c.877delG | p.Val293Ter | PTC | 1 | 0 | 2 | Novel | NA | |
Total | 4 | 2 | 10 | ||||||
CPS1 | Intron 3 | c.236 + 4A > G (NM_001875.4) | Splice site | Splice site | 1 | 0 | 2 | Novel | |
Exon 19 | c.2339G > A | p.Arg780His | Missense | 1 | 0 | 2 | [52] | 0.00003304 | |
Exon 21 | c.2623A > G | p.Lys875Glu | Missense | 1 | 0 | 2 | [18] | 0.002427 | |
NAGS | Exon 3 | c.787G > T | p.Glu263Ter | PTC | 1 | 0 | 2 | Novel | NA |
Exon 4 | c.991C > T | p.Gln331Ter | PTC | 1 | 0 | 2 | Novel | NA | |
SLC25A13 | Exon 7 | c.650delT | p.Phe217Serfs*33 | Deletion sbp | 0 | 1 | 1 | [11] | |
Exon 9 | c.869T > C | p.Ile290Thr | Missense | 0 | 1 | 1 | [11] | 0.000008256 | |
SLC7A7 | Exon 15 | c.158C > T | p.Ser53Leu | Missense | 1 | 0 | 2 | [12] | NA |
GRAND TOTAL | 67 | 48 | 100 |