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Table 2 Details of mutations in all patients

From: Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

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   
  1. *sbp single base pair, **PTC Premature termination codon, ***DEL INS Deletion insertion
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172