ABCMdb

ABCC7 p.Gly1287Arg

None has been submitted yet.

Publications

PMID: 15681482 [PubMed] Chou LS et al: "Complete gene scanning by temperature gradient capillary electrophoresis using the cystic fibrosis transmembrane conductance regulator gene as a model."

No. Sentence Comment

190 Entire 27 CF Exons of 12 Deidentified DNA Samples Scanned by TGCE Method Exon Amplicon size (bp) Alterations* Confirmation by sequencing Consequence† 1 335 1 125 G/C Sequence variation (5Ј flanking) 2 210 0 3 234 1 332 C/T Change Pro to Leu at 67 4 270 0 5 186 0 6a 248 1 875 ϩ 40 A/G Sequence variation in intron 6a 6b 239 4 IVS6a (GATT)n‡ Sequence variation in intron 6a 7 345 0 8 233 0 9 263 0 10 292 0 11 175 0 12 250 0 13 834 0 14a 248 5 2694 T/G No change (Thr at 854) 14b 192 1 2789 ϩ 2 ins A Suspected deleterious 15 322 1 3030 G/A No change (Thr at 966) 16 216 0 17a 243 0 17b 292 0 18 217 0 19 322 0 20 206 1 3991 G/A Unknown mutation, change Gly to Arg at 1287 21 250 1 4029 A/G No change (Thr at 1299) 22 249 0 23 193 0 24 250 4 4521 G/A No change (Gln at 1463) Total Amplicon analyzed Potential SNP (%)§ 27 324 5% *Number of samples containing potential alterations (n ϭ 12). Login to comment