ABCMdb

ABCC7 p.Asp249Tyr

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
59 of parents receiving CFTR mutation testing Diagnosis/ status Study participants with positive NBS results 1 W, H 83.5 p.F508del* c.2554_2555insTy 7T/9T 2 CF 2 H 527.0 p.F508del c.-877C>T p.F1107L 7T/9T 0 CF 3 W 86.5 p.F508del p.V562Iy c.-837T>Cy 5Tyz /9T 1 CF 4 H 222.3 p.F508del p.I556V c.1278delC NA 0 CF 5 H, O 93.5 p.F508del* c.-152G>Cy 7T/9T 2 CF 6 W, H, B, O 95.4 p.F508del* p.L323Py 5Tyz /9T 2 CF 7 H 70.5 p.F508del p.L32M 7T/9T 0 CF 8 W 209.5 p.F508del c.2883_2886dupGTCA 9T/9T 0 CF 9 H 155.7 p.F508del* c.2349_2350insT 7T/9T 1 CF 10 O 146.8 p.F508del* c.3718-24G>Ay 5Tyx /9T 2 CF 11 B 99.4 p.A559T* p.L206Wy c.-448A>G* 7T/9T 2 CF 12 W, H 90.3 p.P205S p.K114del 7T/7T 0 CF 13 H 69.7 p.P205S p.K114del 7T/7T 0 CF 14 H 82.9 c.274-1G>A* c.-602A>Ty 7T/7T 2 CF 15 W 106.6 p.F508del* c.-461A>Gy c.-983A>T* 7T/9T 2 CRMS 16 W, B 83.9 p.F508del c.4243-5C>T 5T*x /9T 1 CRMS 17 W 81.5 p.F508del* p.I1027T* p.Y325C 7T/9T 2 CRMS 18 H 70.7 p.F508del c.-967T>C 9T/9T 0 CRMS 19 W, H 62.4 p.F508del* c.-635A>G 7T/9T 1 CRMS 20 H 65.4 p.F508dely c.2490 &#fe; 14G>T* 7T/9T 2 CRMS 21 W 69.3 p.F508del* c.744-15T>Cy 7T/9T 2 CRMS 22 W, H, O 66.2 p.F508del p.D249Y 7T/9T 0 CRMS 23 H 94.8 p.F508del p.R811S 7T/9T 0 CRMS 24 W 75.8 p.F508del* p.H1375Ny 7T/9T 2 CRMS 25 H 63.0 p.F508del p.L136P 7T/9T 0 CRMS 26 W, O 63.0 p.F508del* p.M1140L 7T/9T 1 CRMS 27 W, O 91.7 p.F508del p.V1198M 9T/9T 0 CRMS 28 H 69.3 p.F508dely c.1767-13T>G* 7T/9T 2 CRMS 29 H 108.8 p.F508del p.V1322L 7T/9T 0 CRMS 30 H 96.4 p.F508dely p.C76R* 7T/9T 2 CRMS 31 H 69.0 c.3140-26A>G c.-510G>A* 7T/7T 1 CRMS 32 H 100.2 p.G542X c.-684G>A* 7T/9T 1 CRMS 33 H 84.1 c.1153_1154insAT* c.-730A>Gy 7T/7T 2 CRMS 34 H 62.9 c.1973_ 1985del13insAGAAA* p.D112Gy 7T/7T 2 CRMS 35 H 116.7 c.3744delA* p.T887P 7T/7T 1 CRMS 36 B 73.3 c.2988 &#fe; 1G>A c.-288G>C 7T/9T 0 CRMS 37 H 93.5 p.R75X c.3367 &#fe; 3A>C 7T/7T 0 CRMS 38 W, H 81.4 c.3717 &#fe; 12191C>T* c.-769A>Gy 7T/7T 2 CRMS 39 W 79.0 c.3717 &#fe; 12191C>Ty p.R668Cy p.T1396P* 7T/9T 2 CRMS 40 H 87.3 c.274-1G>A p.F315S 7T/7T 0 CRMS 41 H 79.7 p.G542X c.869 &#fe; 8G>T 7T/9T 0 CRMS 42 O 79.8 p.R553X p.T1478R 7T/7T 0 CRMS 43 H 70.5 p.A559T* c.-448A>G* 7T/7T 2 Carrier 44 B 76.2 p.A559T* c.-448A>G* 7T/7T 1 Carrier 45 W, H 69.2 p.G85E* c.744-15T>C* 5Tyz /7T 2 Carrier 46 W 69.1 p.N1303K* c.2490 &#fe; 14G>A* 7T/9T 1 Carrier 47 W, O 111.7 p.F508del c.3963 &#fe; 6G>T 7T/9T 0 ND{ 48 W 80.1 p.F508del p.R1128G 7T/9T 0 ND{ (table continues) sequencing. Login to comment
186 Participants 16 to 35 and 37 to 42, with the following novel variants, have been classified as having CRMS to date: c.-967T>C, c.-769A>G, c.-730A>G, c.-684G>A, c.-635A>G, c.-510G>A, p.C76R, p.D112G, p.L136P, c.744-15T>C, p.D249Y, c.869 &#fe; 8G>T, p.F315S, p.Y325C, p.R811S, c.1767-13T>G, c.2490 &#fe; 14G>T, p.T887P, c.3367 &#fe; 3A>C, p.M1140L, p.V1198M, p.V1322L, p.H1375N, p.T1396P, c.4243-5C>T, and p.T1478R. Login to comment