ABCMdb

ABCC7 p.Tyr563*

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Publications

PMID: 16436643 [PubMed] Elahi E et al: "A haplotype framework for cystic fibrosis mutations in Iran."

No. Sentence Comment

111 of Patients Total alleles* Associated haplotype Global distributionHom Het Exon 1 c.134TϾC M1T 1 1 Rare Exon 3 c.386GϾA G85E 1 1 Global Exon 4 c.460GϾC D110H 1 1 H2 Europe Exon 7 c.1132CϾT R334W 1 1 H2 Global Exon 7 c.1145CϾT T338I 1 1 Europe Intron 9 c.1525-1GϾA Mis-splicing 1 1 H8 Pakistan Exon 10 c.1529CϾG S466X 1 2 H4 Germany Exon 10 c.1531CϾT L467F 1 1 Rare Exon 10 c.1649TϾC I506T 1 2 H8 Lebanon Exon 10 c.1652del3† ⌬F508 6 7 19 H5 Global Exon 10 c.1677delTA 515fs 4 1 9 H1 Europe Exon 11 c.1756GϾT G542X 1 1 H5 Global Exon 12 c.1821CϾA Y563X 2 2 Europe Exon 13 c.2183AAϾG 684fs 3 6 H3 Europe Exon 17a c.3170CϾT P1013L 1 1 Turkey Exon 19 c.3616CϾT R1162X 2 2 H2 Germany Exon 19 c.3661AϾT K1177X 1 1 3 H2 Bahrain Intron 20 c.4005ϩ1GϾA Mis-splicing 1 2 H2 Europe Exon 21 c.4041CϾG N1303K 3 1 7 H5 Global Exon 23 c.4363CϾT Q1412X 1 1 Rare *A total of 64 (53%) of the 120 expected alleles were observed. Login to comment
167 Haplotypes Observed in Iranian CF Patients and a European Control Group Haplotype c.876-33 (delTTGA) c.1001ϩ11 (C/T) c.1540 (A/G) c.3601-65 (C/A) c.4006-200 (G/A) c.4521 (G/A) Iranian CF patients (%) European controls (%) H0 7 C A C G A 1 2 H1 7 C G C G A 7 2 H2 7 C G C G G 25 39 H3 7 C A C G G 9 - H4 6 C A C G G 3 - H5 6 T A C G G 36 - H3, H4, H5 - - A C G G (48) 35 H6 7 C A A G G 3 0 H7 7 C G A G G 2 0 H8 7 C A C A G 3 0 H9 7 C A A A A 7 14 H10 7 C G A A A 5 9 Europe before it was introduced by migration, possibly from the Middle East.4,45 As for patients of European, Bashkortostanian, and Turkish descent, the vast majority (18 of 19) of the ⌬F508 alleles were associated with allele 6 of the TTGA repeat in intron 6b.9,46,47 All ⌬F508 mutations were found on the same SNP haplotype background, consistent with a report that ⌬F508 had extensive allele sharing of STR haplotypes in a French population48 and its complete linkage with a single variant of the intron 9 splice site polymorphism.49 All other CFTR mutations found on more than one chromosome, except p.Y563X, could be assigned to a single haplotype (Table 1). Login to comment

PMID: 14685937 [PubMed] Groman JD et al: "Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign."

No. Sentence Comment

37 Each of the 98 patients with CBAVD had 5T with one of the following mutations: DF508 (78), G542X (6), N1303K (3), 711af9;1GrT (2), R1066C (2), R1162X (2), R764X (1), Y563X (1), H609R (1), L206W (1), or R334W (1). Login to comment
38 5T was confirmed by use of pedigree analysis to be in trans with R764X, Y563X, and H609X and was inferred as in trans for the remaining mutations, since these mutations have never been found to be in linkage disequilibrium with 5T in previous population sampling. Login to comment