PMID: 16714368

Radpour R, Gilani MA, Gourabi H, Dizaj AV, Mollamohamadi S
Molecular analysis of the IVS8-T splice variant 5T and M470V exon 10 missense polymorphism in Iranian males with congenital bilateral absence of the vas deferens.
Mol Hum Reprod. 2006 Jul;12(7):469-73. Epub 2006 May 19., [PubMed]
Sentences
No. Mutations Sentence Comment
55 ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 16714368:55:189
status: NEW
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ABCC7 p.Arg347His
X
ABCC7 p.Arg347His 16714368:55:182
status: NEW
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The analysis of the entire coding sequence allowed us to identify 16 different mutations in CBAVD patients, 13 mutations identified by kit and 3 mutations identified by genome scan (R347H, R553X and 1540A/G) (Table III). Login to comment
90 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 16714368:90:201
status: NEW
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ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 16714368:90:583
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 16714368:90:74
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 16714368:90:176
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 16714368:90:325
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 16714368:90:851
status: NEW
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ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 16714368:90:448
status: NEW
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ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 16714368:90:1043
status: NEW
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ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 16714368:90:659
status: NEW
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ABCC7 p.Arg347His
X
ABCC7 p.Arg347His 16714368:90:170
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 16714368:90:986
status: NEW
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ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 16714368:90:557
status: NEW
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ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 16714368:90:959
status: NEW
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Mutation geno types IVS8-PolyT M470V n (%) Two mutations detected F508del/R117H 9T/9T M/M 1 (0.94) F508del/621+1G>T 7T/7T V/V 1 (0.94) 1540A/G/1540A/G 7T/7T M/M 2 (1.89) R347H/R117H 9T/7T M/V 1 (0.94) G551D/IVS8-5T 7T/5T M/V 2 (1.89) F508del/IVS8-5T 7T/5T M/V 8 (7.55) 9T/5T M/M 6 (5.67) 1717-1G>A/IVS8-5T 7T/5T M/V 4 (3.77) R117H/IVS8-5T 7T/5T M/V 2 (1.89) 621+1G>T/IVS8-5T 7T/5T M/V 3 (2.83) 9T/5T M/M 2 (1.89) 1540A/G/IVS8-5T 7T/5T M/V 2 (1.89) R553X/IVS8-5T 7T/5T M/V 1 (0.94) IVS8-5T/IVS8-5T 5T/5T V/V 3 (2.83) 5T/5T M/M 8 (7.55) One mutation detected G85E/- 7T/7T V/V 2 (1.89) G551D/- 9T/7T V/V 1 (0.94) 621+1G>T/- 7T/7T M/M 2 (1.89) 9T/7T M/V 1 (0.94) R334W/- 7T/7T M/V 1 (0.94) F508del/- 7T/7T M/V 7 (6.60) 9T/7T M/M 3 (2.83) 9T/9T M/V 2 (1.89) IVS8-5T/- 5T/7T M/M 3 (2.83) 5T/9T M/V 2 (1.89) 1717-1G>A/- 7T/7T M/V 3 (2.83) 9T/7T M/V 2 (1.89) R117H/- 7T/7T M/M 2 (1.89) 9T/7T M/V 1 (0.94) 2789+5G>A/- 7T/7T M/M 1 (0.94) 3120+1G>A/- 9T/7T M/V 2 (1.89) R560T/- 9T/7T M/V 1 (0.94) N1303K/- 9T/7T V/V 1 (0.94) 1651A/G/- 7T/7T M/V 1 (0.94) R553X/- 9T/7T M/V 1 (0.94) No mutation detected -/- 7T/7T M/M 12 (11.32) -/- 9T/9T M/M 3 (2.83) -/- 9T/7T M/V 6 (5.66) Table IV. Login to comment
92 ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 16714368:92:70
status: NEW
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Different groups n CFTR mutations M470V IVS8-5T M470 M/V V470 CUAVD 1 R334W/? Login to comment
93 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 16714368:93:21
status: NEW
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1 - - 0/2 (allele) 2 R117H/? Login to comment