ABCC7 p.Pro5Leu
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PMID: 17235394
[PubMed]
Thelin WR et al: "Direct interaction with filamins modulates the stability and plasma membrane expression of CFTR."
No.
Sentence
Comment
42
Using the CF mutations database (http://www.genet.sickkids.on.ca/cftr), we identified 3 previously described missense mutations in the extreme N terminus of CFTR: proline 5 to leucine (P5L), serine 13 to phenylalanine (S13F), and tryptophan 19 to cysteine (W19C) (31, 32).
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ABCC7 p.Pro5Leu 17235394:42:163
status: NEW
PMID: 19724303
[PubMed]
Sanz J et al: "The CFTR frameshift mutation 3905insT and its effect at transcript and protein level."
No.
Sentence
Comment
26
Two patients carried the 3905insT (c.3773_3774insT) mutation on one allele and the P5L (p.Pro5Leu) or the Q39X (p.Gln39X) mutation, respectively, on the other allele.
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ABCC7 p.Pro5Leu 19724303:26:90
status: NEW
PMID: 25910067
[PubMed]
Lucarelli M et al: "A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis."
No.
Sentence
Comment
362
Allele legacy name Allele HGVS name Clinical classification CFTR2 M1V c.1A>G CF-PI CF-causing p.Met1Val P5L c.14C>T CF-PS,CFTR-RD nd p.Pro5Leu ex2,3del c.54-5940_273+10250del21080 CF-PI CF-causing ex2del c.54-1161_164+1603del2875 CF-PI nd W19X(TAG) c.56G>A CF-PI nd p.Trp19* [L24F;296+2T>G] c.
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ABCC7 p.Pro5Leu 25910067:362:135
status: NEW