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Table 2 Summary of mutations identified in TTC37 and SKIV2L

From: Syndromic diarrhea/Tricho-hepato-enteric syndrome

Gene

Type of mutation

Mutation (Transcript)

Mutation (Protein)

Exon

Number of families

Number of affected individuals

References for mutation description

References for clinical description

TTC37

Deletion

c.287_291del

p.(Leu96Trpfs*11)

6

1

2

[3]

[15] patient 22

 

Stop

c.439C < T

p.(Gln147*)

8

1

1

[2]

[2] patient 10

 

Missense

c.751G < A

p.(Phe215GluFs*14)

10

1

1

[2]

[2] patient 7

 

Deletion

c.811del

p.(Ser271Valfs*8)

11

1

1

Personal Data

 
 

Deletion

c.1168del

p.(Val390Phefs*30)

14

1

1

[3]

 
 

Deletion

c.1300_1301del

p.(Lys434Glyfs*14)

15

1

1

[2]

[2] patient 9

 

Duplication

c.1305dup

p.(Tyr436Leufs*13)

15

1

1

Personal Data

 
 

Splice site

c.1632 + 1del

p.(Glu545Phefs*40)

17

1

1

[2] patient 5

[2]

 

Splice site

c.1453-1G < C

ND

17

1

1

Personal Data

 
 

Stop

c.1708C < T

p.(Arg570*)

18

1

1

Personal Data

 
 

Stop

c.2251C < T

p.(Gln751*)

21

1

1

[2]

[2] patient 10

 

Splice site

c.2515 + 1G < C

p.(Cys813ValfsX56)

23

1

1

[3]

 
 

Splice site

c.2578-7_2578-3del

p.(Asn860_878GluDel)

25

1

1

[3]

[1] patient 1

 

Splice site

c.2779-2A < G

p.(Glu974Glyfs*19)

28

2

2

[2]

[2] patients 4 and 6

 

Stop

c.2808G < A

p.(Trp936*)

28

4

5

[2]

[2] patients 1,2, 8,12,

 

Splice site

c.2921-2G < A

ND

29

1

1

[14]

 
 

Splice site

c.3015-1G < A

ND

30

1

1

[3]

 
 

Splice site

c.3564-2A < G

ND

31

1

1

[3]

 
 

Missense

c.3230C < A

p.(Ala1077Asp)

32

1

1

[3]

[15] patient 18

 

Missense

c.3808C < G

p.(Pro1270Ala)

37

1

1

[3]

 
 

Missense

c.3847G < A

p.(Asp1283Asn)

37

2

2

[2]

[2] patients 3 and 11

 

Stop

c.3960C < A

p.(Tyr1320*)

38

1

1

[3]

[1] patient 2

 

Missense

c.4454T < G

p.(Leu1485Arg)

41

1

1

[3]

 
 

Missense

c.4514T < C

p.(Leu1505Ser)

42

2

2

[2]

[2] patient 9

 

Splice site

c.4620 + 1G < C

p.(Trp1524_1564DelIns61)

42

1

1

[3]

[1] patient 1

SKIV2L

Stop

c.848G < A,

p.(Trp283*)

9

1

1

[4]

 
 

Missense

c.1022T < G

p.(Val341Gly)

10

1

1

[4]

 
 

Deletion

c.1434del

p.(Ser479Alafs*3)

14

1

1

[4]

[15] patient 25

 

Insertion

c.1635_1636insA,

p.(Gly546Argfs*35)

15

1

1

[4]

[15] patient 21

 

Stop

c.2266C < T

p.(Arg756*)

19

1

1

[4]

[15] patient 23

 

Stop

c.2442G < A

p.(Trp814*)

20

1

1

[4]

[15] patient 23

 

Deletion

c.2572del

p.(Val858*)

21

1

1

[4]

 
 

Deletion

c.2662_2663del

p.(Arg888Glyfs*12)

22

1

1

[4]

 
 

Deletion

c.3561_3581del

p.(Ser1189_Leu1195del)

28

1

1

Personal Data

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