ABCC7 p.Pro750Leu

ClinVar: c.2249C>T , p.Pro750Leu ? , Uncertain significance
CF databases: c.2249C>T , p.Pro750Leu (CFTR1) D , This missense was found in a fetus with echogenic abnormalities. No other mutation was found.P750L is probably a CF mutation as Proline at this position is conserved in 5 species.
Predicted by SNAP2: A: D (53%), C: D (53%), D: D (59%), E: D (80%), F: D (75%), G: D (53%), H: D (75%), I: N (53%), K: N (66%), L: D (71%), M: D (63%), N: D (53%), Q: D (71%), R: D (80%), S: N (61%), T: D (66%), V: N (57%), W: D (80%), Y: D (75%),
Predicted by PROVEAN: A: N, C: D, D: N, E: N, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, Q: N, R: D, S: N, T: N, V: D, W: D, Y: D,

[switch to compact view]
Comments [show]
Publications
[hide] Orozco L, Velazquez R, Zielenski J, Tsui LC, Chavez M, Lezana JL, Saldana Y, Hernandez E, Carnevale A
Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G-->A).
Hum Genet. 2000 Mar;106(3):360-5., [PMID:10798368]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Bobadilla JL, Macek M Jr, Fine JP, Farrell PM
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
Hum Mutat. 2002 Jun;19(6):575-606., [PMID:12007216]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Danziger KL, Black LD, Keiles SB, Kammesheidt A, Turek PJ
Improved detection of cystic fibrosis mutations in infertility patients with DNA sequence analysis.
Hum Reprod. 2004 Mar;19(3):540-6. Epub 2004 Jan 29., [PMID:14998948]

Abstract [show]
Comments [show]
Sentences [show]

[hide] McGinniss MJ, Chen C, Redman JB, Buller A, Quan F, Peng M, Giusti R, Hantash FM, Huang D, Sun W, Strom CM
Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.
Hum Genet. 2005 Dec;118(3-4):331-8. Epub 2005 Sep 28., [PMID:16189704]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Soultan ZN, Foster MM, Newman NB, Anbar RD
Sweat chloride testing in infants identified as heterozygote carriers by newborn screening.
J Pediatr. 2008 Dec;153(6):857-9., [PMID:19014821]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Lucarelli M, Narzi L, Pierandrei S, Bruno SM, Stamato A, d'Avanzo M, Strom R, Quattrucci S
A new complex allele of the CFTR gene partially explains the variable phenotype of the L997F mutation.
Genet Med. 2010 Sep;12(9):548-55., [PMID:20706124]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Sutton JM, Schmulewitz N, Sussman JJ, Smith M, Kurland JE, Brunner JE, Salehi M, Choe KA, Ahmad SA
Total pancreatectomy and islet cell autotransplantation as a means of treating patients with genetically linked pancreatitis.
Surgery. 2010 Oct;148(4):676-85; discussion 685-6., [PMID:20846557]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Li H, Wen Q, Li H, Zhao L, Zhang X, Wang J, Cheng L, Yang J, Chen S, Ma X, Wang B
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens.
J Cyst Fibros. 2012 Jul;11(4):316-23. doi: 10.1016/j.jcf.2012.01.005. Epub 2012 Apr 6., [PMID:22483971]

Abstract [show]
Comments [show]
Sentences [show]

[hide] Perez MM, Luna MC, Pivetta OH, Keyeux G
CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent.
J Cyst Fibros. 2007 May;6(3):194-208. Epub 2006 Sep 11., [PMID:16963320]

Abstract [show]
Comments [show]
Sentences [show]