ABCMdb

ABCC7 p.Ser13Cys

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
74 of parents receiving CFTR mutation testing Diagnosis/ status 49 W 80.6 p.F508del p.S13C 7T/9T 0 ND{ 50 H 90.3 c.274-1G>A p.T629A 7T/9T 0 ND{ 51 W, B 100.6 p.F508del p.P355L (c.1064C>T) 7T/9T 0 ND{ 52 H 79.1 p.F508del p.Q493H (c.1479G>C) 7T/9T 0 ND{ 53 W, B 64.8 p.F508del p.V1022M 7T/9T 0 ND{ 54 W 74.7 p.F508del c.-887C>T c.4243-5C>T 7T/9T 0 NDk 55 O 136.6 p.F508del p.P718R 7T/9T 0 ND{ Study participants with negative NBS results 56 H 276.7 c.2822delT c.2822delT 7T/7T 0 CF 57 H 179.2 c.2822delT c.2822delT 7T/7T 0 CF 58 W 15.6 p.S1235R c.-288G>C 7T/9T 0 CF 59 H 35.1 c.164 &#fe; 4T>A* p.G1173S* Not done 1 Carrier 60 O 20.2 c.4136 &#fe; 12A>G* p.M837Ty Not done 2 NDk *Confirmed by parental CFTR mutation testing to be on chromosome 1. y Confirmed by parental CFTR mutation testing to be on chromosome 2. z 5T variant associated with (TG)11. x 5T variant associated with (TG)12. Login to comment
191 47 to 55 and 60) with the following novel variants owing to inadequate follow-up: p.S13C, p.P355L, p.Q493H, p.T629A, p.P718R, p.V1022M, p.R1128G, and c.3963 &#fe; 6G>T. Login to comment