PMID: 18556774

Schrijver I, Rappahahn K, Pique L, Kharrazi M, Wong LJ
Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis.
J Mol Diagn. 2008 Jul;10(4):368-75. Epub 2008 Jun 13., [PubMed]
Sentences
No. Mutations Sentence Comment
92 ABCC7 p.His1085Arg
X
ABCC7 p.His1085Arg 18556774:92:89
status: NEW
view ABCC7 p.His1085Arg details
on.ca/cftr/) and is considered a specific African-American mutation.24 Finally, mutation H1085R has been described repeatedly (http://www.genet.sickkids.on.ca/cftr/) and was identified in one homozygous Japanese patient who was born to consanguineous parents.28 Thus, of the 22 mutations described in non-Caucasian populations, at least six (27.3%) are recurrent and may be specific to non-Caucasian populations. Login to comment
112 ABCC7 p.Trp1316*
X
ABCC7 p.Trp1316* 18556774:112:1743
status: NEW
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ABCC7 p.Ser307Asn
X
ABCC7 p.Ser307Asn 18556774:112:710
status: NEW
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ABCC7 p.His1085Arg
X
ABCC7 p.His1085Arg 18556774:112:1475
status: NEW
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ABCC7 p.His484Tyr
X
ABCC7 p.His484Tyr 18556774:112:878
status: NEW
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ABCC7 p.Gln179Lys
X
ABCC7 p.Gln179Lys 18556774:112:499
status: NEW
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ABCC7 p.Leu218*
X
ABCC7 p.Leu218* 18556774:112:562
status: NEW
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ABCC7 p.Phe1016Ser
X
ABCC7 p.Phe1016Ser 18556774:112:1410
status: NEW
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ABCC7 p.Lys536*
X
ABCC7 p.Lys536* 18556774:112:967
status: NEW
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ABCC7 p.Met1137Arg
X
ABCC7 p.Met1137Arg 18556774:112:1539
status: NEW
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ABCC7 p.Glu1409Lys
X
ABCC7 p.Glu1409Lys 18556774:112:1888
status: NEW
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ABCC7 p.Ser485Cys
X
ABCC7 p.Ser485Cys 18556774:112:895
status: NEW
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ABCC7 p.Met1407Thr
X
ABCC7 p.Met1407Thr 18556774:112:1871
status: NEW
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Mutations under MLPA Ligation Sites Exon Probe length (nt) Ligation site sequence Mutations in area of ligation site sequence* 1,5Ј UTR 154 5Ј-GAGCAAAT-TTGGGGCC-3Ј N/A 1,5Ј UTR 238 5Ј-AAAGGGTT-GAGCGGCA-3Ј 2 198 5Ј-TTGGTATA-TGTCTGAC-3Ј (5) 3 136 5Ј-CTGCTAGT-GTTGCCAA-3Ј (3) 3 220 5Ј-TTCAAAGA-AAAATCCT-3Ј 4 247 5Ј-AGAATCAT-AGCTTCCT-3Ј 444delA, African; 451del8, Chinese; (6) 5 346 5Ј-AAATAAGT-ATTGGACA-3Ј Q179K, Hispanic (7) 6a 274 5Ј-GAGTTGTT-ACAGGCGT-3Ј L218X, Pakistani (4) 6b 301 5Ј-ATTTTCAA-TCATTTCT-3Ј 935delA, Hispanic; 936delTA, Hispanic (3) 7 337 5Ј-ACTTCAAT-AGCTCAGC-3Ј S307N, Turkish (9) 8, IVS 8 364 5Ј-TTTCTAGA-TTAAGAAG-3Ј N/A 9, IVS 8 391 5Ј-TCCATCAC-ACTGGTAG-3Ј N/A 10 463 5Ј-TCCACTGT-GCTTAATT-3Ј H484Y, Hispanic; S485C, Chinese-Caucasian (5) 11 418 5Ј-CAGAGAAA-GACAATAT-3Ј K536X, Iranian; 1742delAC, Japanese (5) 12, IVS 12 292 5Ј-TGCATTTT-ACCTCTTG-3Ј N/A 13 142 5Ј-CAGATTCT-GAGCAGGG-3Ј (1) 14a 160 5Ј-GTATGTGT-TCCATGTA-3Ј (3) 14b 178 5Ј-CTGCTTCT-TTGGTTGT-3Ј 2766del8, Tunisian (1) 15 204 5Ј-GCTTGCTA-TGGGATTC-3Ј (1) 16, IVS 16 229 5Ј-GATGTAAT-AGCTGTCT-3Ј N/A 17a 256 5Ј-TGCAACAA-AGATGTAG-3Ј 3171delC, Hispanic; 3173delAC, Turkish; F1016S, Hispanic (5) 17b 283 5Ј-CAGTATGT-AAATTCAG-3Ј H1085R, Japanese (4) 18 310 5Ј-CCATGAAT-ATCATGAG-3Ј M1137R, Hispanic (6) 19 353 5Ј-TCTGTGTA-TTTTGCTG-3Ј 3791delC, African-American (2) 20 382 5Ј-CTTGGGAT-TCAATAAC-3Ј 3960delA, Hispanic (2) 21 409 5Ј-TGCAACTT-TCCATATT-3Ј W1316X, African-American (2) 22 436 5Ј-GAACAGTT-TCCTGGGA-3Ј No mutations 23 148 5Ј-CCAGCATT-GCTTCTAT-3Ј M1407T, Turkish; E1409K, Hispanic (2) 24 190 5Ј-ATCCAGAA-ACTGCTGA-3Ј No mutations 24 172 5Ј-CTCCTCTT-TCAGAGCA-3Ј UTR, untranslated region; IVS, intervening sequence; N/A, not applicable, probes not in coding region; No mutations, no reported mutations are present in the area of the ligation site sequence, regardless of ethnicity. Login to comment
128 ABCC7 p.His1085Arg
X
ABCC7 p.His1085Arg 18556774:128:74
status: NEW
view ABCC7 p.His1085Arg details
In all, at least six (444delA, 935delA, 936delTA, 2766del8, 3791delC, and H1085R) of 22 mutations identified in non-Caucasians (27.3%) are recurrent and may be specific to non-Caucasian populations. Login to comment