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Table 4 Genotype of CFTR and mutations inintra-pancreatic activation of trypsin (IPAT) and pancreatic secretion pathway (PSP) genes in in healthy controls

From: Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis

Patient ID

IPAT genes

PSP genes

ID-823

/

ITPR3: c.2755G > T (G919C)

ID-1156

/

SLC4A4: c.2528C > T (A843V)

ID-55

/

TRPV5: c.256G > C (A86P)

ID-96

/

ATP2C2: c.629C > T (T210 M)

ID-181

KRT8: c.184G > T (G62C)

/

ID-182

/

TRPV5: c.1490 T > C (M497 T)

ID-183

/

SLC4A4: c.1805A > G (K602R); TRPV5: c.1490 T > C (M497 T)

ID-252

CASR: c.1672G > T (A558S)

/

ID-508

/

ITPR3: c.1574C > G (P525R)

ID-663

/

ITPR3: c.1244 T > C (L415P)

ID-352

SPINK1: c.101A > G (N34S)

/

  1. All mutations in IPAT and in PSP genes were heterozygous