ABCC7 p.Met595Val
| CF databases: |
c.1783A>G
,
p.Met595Val
(CFTR1)
?
,
c.1784T>C , p.Met595Thr (CFTR1) ? , The M595T mutation was detected in CFTR gene by DHPLC and identified by direct sequencing. This mutation is present with F508del on the same allele. A559T is present on the other allele . c.1785G>A , p.Met595Ile (CFTR1) ? , This mutation was identified by sequencing on one Spanish patient with suspect of a mild form of CF with allergic rhinitis-bronchial asthma who also had [delta]F508 mutation. It had never been observed ina 230 chromosomes of previously sequenced Galician subjects. |
| Predicted by SNAP2: | A: D (63%), C: D (53%), D: D (85%), E: D (85%), F: N (61%), G: D (80%), H: D (80%), I: N (72%), K: D (85%), L: N (87%), N: D (80%), P: D (85%), Q: D (71%), R: D (80%), S: D (75%), T: D (71%), V: D (53%), W: D (80%), Y: D (71%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, L: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, 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
60 (6) Disease causing Screening 6 11 (10) c.1484CNA p.Ser945Tyr Prob. Dam. NT 0.00 Path. (2) Disease causing Screening 7 1 (1) c.2TNG p.Met1Arg Prob. Dam. NT 0.00 Path. (7) Disease causing Asthma 8 14 (11) c.1783ANG p.Met595Val Prob. Dam. NT 0.02 Neut.
X
ABCC7 p.Met595Val 22326559:60:216
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.Met595Val 22326559:72:807
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.Met595Val 22326559:74:807
status: NEW