ABCC7 p.Ser813Pro

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PMID: 17660831 [PubMed] Baker JM et al: "CFTR regulatory region interacts with NBD1 predominantly via multiple transient helices."
No. Sentence Comment
149 Milder phenotypes are seen for many cystic fibrosis-causing CFTR missense mutations within the R region, consistent with this multisite behavior, and the majority of these mutations are at the PKA recognition and phosphorylation sites (R709N, S712C, R735K, S737F, V754M, R766M, R810G and S813P; http://www.
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ABCC7 p.Ser813Pro 17660831:149:288
status: NEW
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PMID: 20571109 [PubMed] Spadafora D et al: "Naturally occurring mutations in the canine CFTR gene."
No. Sentence Comment
148 Nonetheless, a human patient who expressed the S813P mutation with the D110E mutation was reported to have mild CF and the R810G mutation and severe loss of function mutation F508del were present in a patient with CBAVD (7).
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ABCC7 p.Ser813Pro 20571109:148:47
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147 Nonetheless, a human patient who expressed the S813P mutation with the D110E mutation was reported to have mild CF and the R810G mutation and severe loss of function mutation F508del were present in a patient with CBAVD (7).
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ABCC7 p.Ser813Pro 20571109:147:47
status: NEW
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