PMID: 15749233

Cohn JA, Mitchell RM, Jowell PS
The impact of cystic fibrosis and PSTI/SPINK1 gene mutations on susceptibility to chronic pancreatitis.
Clin Lab Med. 2005 Mar;25(1):79-100., [PubMed]
Sentences
No. Mutations Sentence Comment
75 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15749233:75:90
status: NEW
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Twelve alleles were found to have common CFm-v mutations, including 5T in 10 patients and R117H in two patients. Login to comment
77 ABCC7 p.Pro574His
X
ABCC7 p.Pro574His 15749233:77:128
status: NEW
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ABCC7 p.Asp1152His
X
ABCC7 p.Asp1152His 15749233:77:120
status: NEW
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ABCC7 p.Gly1069Arg
X
ABCC7 p.Gly1069Arg 15749233:77:135
status: NEW
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When these six nominal CF carriers were tested further by DNA sequencing, rare mutations were identified in five cases (D1152H, P574H, G1069R, 3120G > A; each detected rare mutation is mild-variable [18,30,48,49]. Login to comment
90 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15749233:90:243
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 15749233:90:462
status: NEW
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ABCC7 p.Pro574His
X
ABCC7 p.Pro574His 15749233:90:319
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 15749233:90:737
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 15749233:90:439
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 15749233:90:864
status: NEW
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ABCC7 p.Arg352Gln
X
ABCC7 p.Arg352Gln 15749233:90:705
status: NEW
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ABCC7 p.Asp1152His
X
ABCC7 p.Asp1152His 15749233:90:287
status: NEW
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ABCC7 p.Asp1152His
X
ABCC7 p.Asp1152His 15749233:90:303
status: NEW
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ABCC7 p.Glu217Gly
X
ABCC7 p.Glu217Gly 15749233:90:799
status: NEW
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ABCC7 p.Leu967Ser
X
ABCC7 p.Leu967Ser 15749233:90:886
status: NEW
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ABCC7 p.Gly1069Arg
X
ABCC7 p.Gly1069Arg 15749233:90:357
status: NEW
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ABCC7 p.Gln1476*
X
ABCC7 p.Gln1476* 15749233:90:729
status: NEW
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ABCC7 p.Val562Ile
X
ABCC7 p.Val562Ile 15749233:90:789
status: NEW
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ABCC7 p.Ala1136Thr
X
ABCC7 p.Ala1136Thr 15749233:90:805
status: NEW
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Table 1 Abnormal CFTR and PSTI genotypes detected in two studies of idiopathic chronic pancreatitis* CFTR genotype category N Genotypes detected in individual subjects US study (Noone et al [47]) CFsev / CFm-v compound heterozygotes 8 DF508 / R117H-7T**; DF508 / 5T; DF508 / 5T; DF508 / D1152H; DF508 / D1152H; DF508 / P574H; DF508 / 3120G>A; 621þ1G>T/G1069R CFm-v / CFm-v compound heterozygotes 1 5T / 5T** CFsev / - (CF carriers) 1 N1303K / - CFm-v / - 7 R117H-7T / -; 5T / -**; 5T / -; 5T / -; 5T / -; 5T / -; 5T / - Normal (- / -) CFTR genotype 22 1 was homozygous for the N34S PSTI mutation; 5 were N34S carriers European study (Audrezet et al [50]) CFsev / CFm-v compound heterozygotes 4 DF508/R352Q; DF508/P5L; DF508/Q1476X; W1282X/5T*** CFm-v / CFm-v compound heterozygotes 2 V562I/5T; E217G/A1136T CFsev / - (CF carriers)**** 3 DF508 / -; DF508 / -; G542X / - CFm-v / - 9 L967S/-**; IVS18-20T>C/-**; c.4575þ2G>A/-; IVS3-6T>C; 5T/-; 5T/-; 5T/-; 5T/-; 5T/- Normal (- / -) CFTR genotype 17 1 was homozygous for the N34S PSTI mutation; 1 was a N34S carrier * CFTR mutations were classified as causing either severe (CFsev ) or mild-variable loss-of-function (CFm-v ) [18,47]; all detected CFsev mutations are CF-causing mutations according to current consensus criteria [79]. Login to comment
95 ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 15749233:95:26
status: NEW
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**** A fourth patient had N1303K / - (CFTR), but was not available for further testing. Login to comment