PMID: 9755815

Meschede D, Dworniczak B, Nieschlag E, Horst J
Genetic diseases of the seminal ducts.
Biomed Pharmacother. 1998;52(5):197-203., [PubMed]
Sentences
No. Mutations Sentence Comment
39 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 9755815:39:148
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 9755815:39:141
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 9755815:39:127
status: NEW
view ABCC7 p.Gly542* details
This is the case in homozygotes and compound heterozygotes for AF508 and other common "severe" mutations such as 17 171 G + A, G542X, G55lD, R553X, W1282X or Nl303K. Login to comment
40 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 9755815:40:148
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 9755815:40:141
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 9755815:40:127
status: NEW
view ABCC7 p.Gly542* details
This is the case in homozygotes and compound heterozygotes for AF508 and other common "severe" mutations such as 17 171 G + A, G542X, G55lD, R553X, W1282X or Nl303K. Login to comment
63 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 9755815:63:11
status: NEW
view ABCC7 p.Arg117His details
AF.508 and R117H are the two most prevalent CFTR mutations among Caucasians with CBAVD. Login to comment
64 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 9755815:64:11
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 9755815:64:36
status: NEW
view ABCC7 p.Arg117His details
While AF508 is a "severe" mutation, R117H can be classified with the "mild" ones. Login to comment
65 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 9755815:65:36
status: NEW
view ABCC7 p.Arg117His details
While AF508 is a "severe" mutation, R117H can be classified with the "mild" ones. Login to comment
71 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 9755815:71:17
status: NEW
view ABCC7 p.Arg117His details
Along with AF508/R117H the AF508/T5 genotype is the most common one among CBAVD patients [6, 161. Login to comment
72 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 9755815:72:17
status: NEW
view ABCC7 p.Arg117His details
Along with AF508/R117H the AF508/T5 genotype is the most common one among CBAVD patients [6, 161. Login to comment
91 ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 9755815:91:56
status: NEW
view ABCC7 p.Arg347Pro details
The seventh patient from this group is heterozygous for R347P, and it is likely that he harbors another mutation that went undetected. Login to comment
92 ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 9755815:92:56
status: NEW
view ABCC7 p.Arg347Pro details
ABCC7 p.Arg347His
X
ABCC7 p.Arg347His 9755815:92:109
status: NEW
view ABCC7 p.Arg347His details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 9755815:92:119
status: NEW
view ABCC7 p.Asn1303Lys details
Another group recently reported a single case of BED0 with compound heterozygosity for the CFTR mutations R347H and N1303K [18]. Login to comment
93 ABCC7 p.Arg347His
X
ABCC7 p.Arg347His 9755815:93:109
status: NEW
view ABCC7 p.Arg347His details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 9755815:93:119
status: NEW
view ABCC7 p.Asn1303Lys details
Another group recently reported a single case of BED0 with compound heterozygosity for the CFTR mutations R347H and N1303K [18]. Login to comment