ABCC7 p.Gln378Arg
| CF databases: |
c.1133A>G
,
p.Gln378Arg
(CFTR1)
?
,
|
| Predicted by SNAP2: | A: N (66%), C: N (66%), D: N (97%), E: N (97%), F: N (61%), G: N (53%), H: N (72%), I: N (66%), K: N (66%), L: N (61%), M: N (72%), N: N (66%), P: N (53%), R: N (57%), S: N (72%), T: N (66%), V: N (66%), W: N (57%), Y: N (66%), |
| Predicted by PROVEAN: | A: N, C: D, D: N, E: N, F: D, G: D, H: N, I: D, K: N, L: D, M: N, N: N, P: N, R: N, S: N, T: N, V: D, W: D, Y: D, |
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[hide] Cystic fibrosis genetic counseling difficulties du... J Cyst Fibros. 2012 Jul;11(4):344-8. doi: 10.1016/j.jcf.2012.01.004. Epub 2012 Feb 11. Poulou M, Fylaktou I, Fotoulaki M, Kanavakis E, Tzetis M
Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene.
J Cyst Fibros. 2012 Jul;11(4):344-8. doi: 10.1016/j.jcf.2012.01.004. Epub 2012 Feb 11., [PMID:22326559]
Abstract [show]
BACKGROUND: The Cystic Fibrosis database includes amongst the 1893 gene mutations and polymorphisms a lot of missense mutations, the disease status of which still remains unproven. In populations with high rates of CFTR mutation heterogeneity, molecular diagnosis is difficult often causing counseling difficulties especially in cases of rare and/or novel mutations. METHODS: Approaches to counseling in cases of novel variants. RESULTS: Thirty-seven novel variants (4 synonymous, 24 missense, 2 frameshift and 10 intronic substitutions) were identified and evaluated with the help of in silico tools. CONCLUSIONS: In a diagnostic environment the answers have to be given within a specific timeframe, the in silico tools in combination with the phenotype offer some help but their diagnostic value is limited and cannot be used in isolation for the determination of the severity of the mutation.
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No. Sentence Comment
59 Case Exon or intron (legacy) Nucleotide change Mutation Other findings Polyphen-2 SIFT Pmut Mutation T@sting Phenotype 1 4 (4) c.405_406dupAC p.Leu136HisfsX18 p.F508del (in trans) N/A N/A N/A Disease causing Classic CF 2 23 (20) c.3815_3816delTG p.Ser1273LeufsX28 p.F508del (in trans) N/A N/A N/A Disease causing Classic CF 3 12 (11) c.1622TNC p.Leu541Pro p.N1303K (in trans) Prob. Dam. NT 0.00 Path. (6) Disease causing Azoospermia 4 17 (15) c.2806CNA p.Pro936Thr p.L1227L Prob. Dam. NT 0.03 Path. (4) Disease causing Inadequate weight gain 5 9 (8) c.1133ANG p.Gln378Arg Prob. Dam. T 0.11 Neut.
X
ABCC7 p.Gln378Arg 22326559:59:562
status: NEW72 Mutation Nucleotide change ESEfinder (WT/MUT) HSF (WT/MUT) Mutation T@ster (WT/MUT) p.L541P c.1622TNC Increased score for 5SS_U2_human (3.48/5.16)/increased score for SC35 (3.48/3.89) Creation of ESE motifs/creation and disruption of ESS motifs Donor gained (0.59) p.P936T c.2806CNA Decreased score for 5SS_U2_human (4.07/3.97)/decreased score for SC35 (4.00/2.72) Increased branch point motif (53.55/83.18)/disruption of ESE motifs No change on splice sites p.Q378R c.1133ANG No change Disruption of ESE motifs/creation of ESS motifs Donor gained (0.94) p.S945Y c.1484CNA Change for SRp40 best hit (4.6/5.76) Disruption of ESE motifs/disruption of ESS motifs Donor increased (0.30/0.91) p.M1R c.2TNG Reduced score for SRp55 (4.34/3.51) Disruption of ESE motifs Acceptor lost/donor increased (0.48 /0.56) p.M595V c.1783ANG No change Donor ss increased (46.9/73.74) if used causes exon skipping.
X
ABCC7 p.Gln378Arg 22326559:72:461
status: NEW74 Mutation Nucleotide change ESEfinder (WT/MUT) HSF (WT/MUT) Mutation T@ster (WT/MUT) p.L541P c.1622TNC Increased score for 5SS_U2_human (3.48/5.16)/increased score for SC35 (3.48/3.89) Creation of ESE motifs/creation and disruption of ESS motifs Donor gained (0.59) p.P936T c.2806CNA Decreased score for 5SS_U2_human (4.07/3.97)/decreased score for SC35 (4.00/2.72) Increased branch point motif (53.55/83.18)/disruption of ESE motifs No change on splice sites p.Q378R c.1133ANG No change Disruption of ESE motifs/creation of ESS motifs Donor gained (0.94) p.S945Y c.1484CNA Change for SRp40 best hit (4.6/5.76) Disruption of ESE motifs/disruption of ESS motifs Donor increased (0.30/0.91) p.M1R c.2TNG Reduced score for SRp55 (4.34/3.51) Disruption of ESE motifs Acceptor lost/donor increased (0.48 /0.56) p.M595V c.1783ANG No change Donor ss increased (46.9/73.74) if used causes exon skipping.
X
ABCC7 p.Gln378Arg 22326559:74:461
status: NEW