ABCMdb

PMID: 20923678

Ooi CY, Dorfman R, Cipolli M, Gonska T, Castellani C, Keenan K, Freedman SD, Zielenski J, Berthiaume Y, Corey M, Schibli S, Tullis E, Durie PR
Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis.
Gastroenterology. 2011 Jan;140(1):153-61. Epub 2010 Nov 9., [PubMed]

Sentences

No. Mutations Sentence Comment

48 ABCC7 p.Gly551Asp The PIP score for a specific mutation is the ratio between PI patients carrying the mutation and all PI and PS patients carrying the same mutation when in a homozygous state or in a heterozygous combination with F508del, G551D, or class I mutations (Table 1, footnote). Login to comment 55 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg334Trp ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Gly85Glu PIP Scores for Common, Well-Defined CFTR Mutations Mutation Canadian Consortium for CF Genetic Studies Verona CF Centre Mutation classTotal PI Total PIϩPS PIP score Total PI Total PIϩPS PIP score 621ϩ1GϾT 96 96 1.00 4 4 1.00 I-III 711ϩ1GϾT 36 36 1.00 1 1 1.00 I-III R553X 24 24 1.00 9 9 1.00 I-III I507del 11 11 1.00 12 12 1.00 I-III G542X 74 75 0.99 22 22 1.00 I-III F508del 1276 1324 0.96 181 188 0.96 I-III 1717-1GϾA 20 21 0.95 23 24 0.96 I-III W1282X 19 20 0.95 2 2 1.00 I-III N1303K 45 48 0.94 30 31 0.97 I-III R1162X 12 13 0.92 21 22 0.95 I-III G551D 59 67 0.88 0 0 - I-III G85E 16 22 0.73 4 5 0.80 I-III A455E 18 37 0.49 0 0 - IV-V 2789ϩ5GϾA 6 16 0.38 3 11 0.27 IV-V R334W 1 10 0.10 0 0 - IV-V 3849ϩ10kbCϾT 2 22 0.09 0 1 0.00 IV-V R117H 1 25 0.04 0 0 - IV-V NOTE. Login to comment 60 ABCC7 p.Arg334Trp Similarly, a ratio of 0.1 demonstrates that 10% of subjects with R334W are PI. Login to comment 66 ABCC7 p.Ala455Glu PIP scores for "moderate" mutations that have an inconsistent effect on pancreatic phenotype (PS and PI), which include 2789 ϩ 5GϾA and A455E, were correctly classified as intermediate (0.38 and 0.59, respectively). Login to comment 67 ABCC7 p.Arg117His ABCC7 p.Arg334Trp Conversely, PIP scores of well-established mild mutations such as R117H, 3849 ϩ 10kbCϾT, and R334W ranged from 0.00 to 0.25. Login to comment