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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