ABCC7 p.Ser813Pro
| CF databases: |
c.2437T>C
,
p.Ser813Pro
(CFTR1)
?
,
|
| Predicted by SNAP2: | A: N (53%), C: N (53%), D: D (71%), E: D (63%), F: D (59%), G: D (53%), H: N (66%), I: D (53%), K: D (59%), L: D (59%), M: N (53%), N: D (53%), P: D (53%), Q: N (66%), R: D (59%), T: N (82%), V: N (53%), W: D (66%), Y: D (53%), |
| Predicted by PROVEAN: | A: N, C: D, D: N, E: N, F: D, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, T: N, V: N, W: D, Y: D, |
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[hide] CFTR regulatory region interacts with NBD1 predomi... Nat Struct Mol Biol. 2007 Aug;14(8):738-45. Epub 2007 Jul 29. Baker JM, Hudson RP, Kanelis V, Choy WY, Thibodeau PH, Thomas PJ, Forman-Kay JD
CFTR regulatory region interacts with NBD1 predominantly via multiple transient helices.
Nat Struct Mol Biol. 2007 Aug;14(8):738-45. Epub 2007 Jul 29., [PMID:17660831]
Abstract [show]
The regulatory (R) region of the cystic fibrosis transmembrane conductance regulator (CFTR) is intrinsically disordered and must be phosphorylated at multiple sites for full CFTR channel activity, with no one specific phosphorylation site required. In addition, nucleotide binding and hydrolysis at the nucleotide-binding domains (NBDs) of CFTR are required for channel gating. We report NMR studies in the absence and presence of NBD1 that provide structural details for the isolated R region and its interaction with NBD1 at residue-level resolution. Several sites in the R region with measured fractional helical propensity mediate interactions with NBD1. Phosphorylation reduces the helicity of many R-region sites and reduces their NBD1 interactions. This evidence for a dynamic complex with NBD1 that transiently engages different sites of the R region suggests a structural explanation for the dependence of CFTR activity on multiple PKA phosphorylation sites.
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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.
X
ABCC7 p.Ser813Pro 17660831:149:288
status: NEW[hide] Naturally occurring mutations in the canine CFTR g... Physiol Genomics. 2010 Aug;42(3):480-5. Epub 2010 Jun 22. Spadafora D, Hawkins EC, Murphy KE, Clark LA, Ballard ST
Naturally occurring mutations in the canine CFTR gene.
Physiol Genomics. 2010 Aug;42(3):480-5. Epub 2010 Jun 22., [PMID:20571109]
Abstract [show]
Naturally occurring cystic fibrosis (CF)-causing mutations in the CFTR gene have not been identified in any nonhuman animal species. Since domestic dogs are known to develop medical conditions associated with atypical CF in humans (e.g., bronchiectasis and pancreatitis), we hypothesized that dogs with these disorders likely have a higher expression rate of CFTR mutations than the at-large population. Temporal temperature-gradient gel electrophoresis (TTGE) was used to screen canine CFTR in 400 animals: 203 dogs diagnosed with pancreatitis, 23 dogs diagnosed with bronchiectasis, and 174 dogs admitted to clinics for any illness (at-large dogs). Twenty-eight dogs were identified with one of four CFTR missense mutations. P1281T and P1464H mutations occur in relatively unconserved residues. R1456W is analogous to the human R1453W mutation, which has approximately 20% of normal CFTR function and is associated with pancreatitis and panbronchiolitis. R812W disrupts a highly conserved protein kinase A recognition site within the regulatory domain. We conclude that naturally occurring CFTR mutations are relatively common in domestic dogs and can be detected with TTGE. No substantive differences in mutation frequency were observed between the at-large, pancreatitis, and bronchiectasis dogs.
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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
status: NEW147 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