ABCMdb

ABCC7 p.Met595Val

None has been submitted yet.

Publications

PMID: 22326559 [PubMed] Poulou M et al: "Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene."

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. Login to comment
72 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. Login to comment
74 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. Login to comment