ABCMdb

ABCC7 p.Gly1173Ser

None has been submitted yet.

Publications

PMID: 23810505 [PubMed] Prach L et al: "Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California."

No. Sentence Comment

56 Multiplex ligation-dependent probe amplification12 (MRC-Holland, Amsterdam, The Netherlands) was used to determine gross deletions or duplications when CF was suspected but no or one CFTR mutations were detected by Table 1 Description of Novel CFTR Variants Identified in California, July 16, 2007, to July 15, 2010 CFTR region Nucleotide change Predicted amino acid change Type of mutation Promoter c.-983A>T Promoter c.-967T>C Promoter c.-837T>C Promoter c.-769A>G Promoter c.-730A>G Promoter c.-684G>A Promoter c.-635A>G Promoter c.-602A>T Promoter c.-510G>A Promoter c.-448A>G Promoter c.-288G>C Promoter c.-152G>C Exon 1 c.38C>G p.S13C Missense Exon 2 c.94C>A p.L32M Missense Intron 2 c.164 &#fe; 4T>A Exon 3 c.226T>C p.C76R Missense Exon 4 c.335A>G p.D112G Missense Exon 4 c.407T>C p.L136P Missense Exon 4 c.472_474delAAG p.K114del In-frame deletion Intron 6 c.744-15T>C Exon 7 c.745G>T p.D249Y Missense Intron 7 c.869 &#fe; 8G>T Exon 8 c.944T>C p.F315S Missense Exon 8 c.968T>C p.L323P Missense Exon 8 c.974A>G p.Y325C Missense Exon 8 c.1064C>T p.P355Ly Missense Exon 10 c.1278delC p.D426Efs*16 (stop codon at 441) Frameshift Exon 11 c.1479G>C p.Q493Hy Missense Exon 14 c.1885A>G p.T629A Missense Exon 14 c.2153C>G p.P718R Missense Exon 14 c.2433G>T p.R811S Missense Exon 14 c.2349_2350insT p.H784Sfs*21 (stop codon at 804) Frameshift Intron 13 c.1767-13T>G Intron 14 c.2490 &#fe; 14G>A Intron 14 c.2490 &#fe; 14G>T Exon 15 c.2554_2555insT p.Y852Lfs*44 (stop codon at 895) Frameshift Exon 15 c.2510T>C p.M837T Missense Exon 17 c.2659A>C p.T887P Missense Exon 17 c.2883_2886dupGTCA p.T963Vfs*13 (stop codon at 975) Frameshift Exon 17 c.2822delT p.L941Qfs*27 (stop codon at 967) Frameshift Exon 19 c.3064G>A p.V1022M Missense Exon 20 c.3319T>C p.F1107L Missense Intron 20 c.3367 &#fe; 3A>Cy Exon 21 c.3382A>G p.R1128G Missense Exon 21 c.3418A>T p.M1140L Missense Exon 22 c.3517G>A p.G1173S Missense Exon 22 c.3592G>A p.V1198M Missense Intron 22 c.3718-24G>A Intron 23 c.3963 &#fe; 6G>T Exon 25 c.3964G>C p.V1322L Missense Exon 25 c.4123C>A p.H1375N Missense Intron 25 c.4136 &#fe; 12A>G Exon 26 c.4186A>C p.T1396P Missense Intron 26 c.4243-5C>T Exon 27 c.4433C>G p.T1478R Missense y A known mutation occurs at the same nucleotide position or codon. Login to comment
184 Parental testing for participants 45, 46, and 59, all diagnosed as CFTR carriers, showed the following mutation pairs to be in cis: p.G85E with c.744-15T>C (novel), p.N1303K with c.2490 &#fe; 14G>A (novel), and c.164 &#fe; 4T>A (novel) with p.G1173S (novel), respectively. Login to comment
185 ESP reported the p.G1173S variant with a frequency of 1 in 10,757 (0.01%), and the c.- 461A>G variant had a frequency of 2 in 2188 (0.09%) according to 1000 Genomes.5 Novel Variants Probably Not Causative of CF Manifestations to Date Twenty-six participants carrying 26 of the 55 novel variants (47%) have not shown consistent manifestations of CF over time. Login to comment