ABCC7 p.Arg553Asp
| ClinVar: |
c.1657C>T
,
p.Arg553*
D
, Pathogenic
c.1657C>G , p.Arg553Gly ? , not provided c.1658G>A , p.Arg553Gln D , Pathogenic |
| CF databases: |
c.1657C>T
,
p.Arg553*
D
, CF-causing
c.1657C>G , p.Arg553Gly (CFTR1) ? , This mutation was found identified by DGGE and direct sequencing. This nucleotide change was observe in a French CF chromosome. c.1658G>A , p.Arg553Gln (CFTR1) ? , The amino acid change was found in a German CF patient on the maternal [delta]F508 CF chromosome associated with the haplotype 1-2-1-1-1-2 in J3.11(Msp) - KM.19 (Pst) - XV-2c - metH(Msp) - metH (Taq) - metD(taq). The paternal CF chromosome carries the 553X Stop mutation. So far, the R553Q mutation was not found on a small number of normal and of CF [delta]F508 or non-[delta]F508 chromosomes. Since this mutation occurs in the region of sequence identity with other membrane-associated proteins or transport systems that may contain glutamine instead of a basic amino acid at this position, we assume that this mutation may be neither a polymorphism nor may cayse disease but rather modulates the function of the [delta]F508 CFTR gene product. |
| Predicted by SNAP2: | A: D (95%), C: D (95%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (95%), K: D (85%), L: D (95%), M: D (95%), N: D (95%), P: D (95%), Q: D (59%), S: D (95%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: N, F: D, G: D, H: D, I: D, K: N, L: D, M: D, N: D, P: D, Q: N, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Identification of the five most common cystic fibr... Mol Hum Reprod. 1996 Mar;2(3):203-7. Scobie G, Woodroffe B, Fishel S, Kalsheker N
Identification of the five most common cystic fibrosis mutations in single cells using a rapid and specific differential amplification system.
Mol Hum Reprod. 1996 Mar;2(3):203-7., [PMID:9238680]
Abstract [show]
We describe a rapid and specific differential amplification system which can detect five of the most common cystic fibrosis mutations from a single cell. In the first round of the polymerase chain reaction (PCR), regions of exons 4, 10 and 11 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene containing the mutations delta F508, G551D, R553X, G542X and 621+1G > T were co-amplified in a single multiplex PCR. To identify potential contamination, we included external amplification primers for the polymorphic human tyrosine hydroxylase (HUMTH01) locus as a fingerprint for the sample. In the second round of PCR, detection of any of the five mutations was achieved using the amplification refractory mutation system (ARMS) in two separate reactions, each containing nested amplification primers for either wild type or mutant sequence. A separate second round PCR for the fingerprinting was performed with nested HUMTH01 primers. Using this procedure we have successfully and accurately detected five cystic fibrosis mutations in 30 single cells with a failed amplification rate of 7% and a contamination rate of 4.6% and that PCR failure or possible contamination will also be easily detected. This procedure allows detection of the five most common point mutations and small deletions responsible for cystic fibrosis from a single cell in < 8 h which could be applicable to preimplantation diagnosis in human embryos.
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No. Sentence Comment
23 Schematic diagram of external CFTR primers for exons 4, 10 and 11 and the relative positions of the cystic fibrosis mutations 621 + 1 O T , AF508, G542X, R553D and G551X.
X
ABCC7 p.Arg553Asp 9238680:23:154
status: NEW