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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