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PMID: 22701530
Coppinger JA, Hutt DM, Razvi A, Koulov AV, Pankow S, Yates JR 3rd, Balch WE
A chaperone trap contributes to the onset of cystic fibrosis.
PLoS One. 2012;7(5):e37682. doi: 10.1371/journal.pone.0037682. Epub 2012 May 31.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
147
ABCC7 p.Ile539Thr
X
ABCC7 p.Ile539Thr 22701530:147:71
status:
NEW
view ABCC7 p.Ile539Thr details
This stable core structure is never achieved in DF508-NBD1, unless the
I539T
and/or other suppressor mutations are introduced [20,21,23,29,30].
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148
ABCC7 p.Ile539Thr
X
ABCC7 p.Ile539Thr 22701530:148:99
status:
NEW
view ABCC7 p.Ile539Thr details
Interestingly, peptide 4 spans residues 525-532 of NBD1, which places it in close proximity to the
I539T
mutation and within the stable core of the WT protein.
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149
ABCC7 p.Ile539Thr
X
ABCC7 p.Ile539Thr 22701530:149:71
status:
NEW
view ABCC7 p.Ile539Thr details
This stable core structure is never achieved in DF508-NBD1, unless the
I539T
and/or other suppressor mutations are introduced [20,21,23,29,30].
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150
ABCC7 p.Ile539Thr
X
ABCC7 p.Ile539Thr 22701530:150:99
status:
NEW
view ABCC7 p.Ile539Thr details
Interestingly, peptide 4 spans residues 525-532 of NBD1, which places it in close proximity to the
I539T
mutation and within the stable core of the WT protein.
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229
ABCC7 p.Phe494Asn
X
ABCC7 p.Phe494Asn 22701530:229:8
status:
NEW
view ABCC7 p.Phe494Asn details
NBD1-WT(
F494N
)-TTEVVMENVTAFWEEGFGELFE- KAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINF- KIERGQLLAVAGSTGAGKTSLLMMIMGELEPSEGKIKHS- GRISFCSQNSWIMPGTIKENIIFGVSYDEYRYRSVIKACQ- LEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYK- DADLYLLDSPFGYLDVLTEKEIFESCVCKLMANK- TRILVTSKMEHLKKADKILILHEGSSYFYGTF- SELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRF- SLEGDAPVS.
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230
ABCC7 p.Phe494Asn
X
ABCC7 p.Phe494Asn 22701530:230:12
status:
NEW
view ABCC7 p.Phe494Asn details
NBD1-DF508 (
F494N
)-TTEVVMENVTAFWEEGFGELFE- KAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINF- KIERGQLLAVAGSTGAGKTSLLMMIMGELEPSEGKIKHS- GRISFCSQNSWIMPGTIKENIIGVSYDEYRYRSVIKACQ- LEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYK- DADLYLLDSPFGYLDVLTEKEIFESCVCKLMANK- TRILVTSKMEHLKKADKILILHEGSSYFYGTF- SELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRF- SLEGDAPVS.
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233
ABCC7 p.Phe494Asn
X
ABCC7 p.Phe494Asn 22701530:233:8
status:
NEW
view ABCC7 p.Phe494Asn details
NBD1-WT(
F494N
)-TTEVVMENVTAFWEEGFGELFE- KAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINF- KIERGQLLAVAGSTGAGKTSLLMMIMGELEPSEGKIKHS- GRISFCSQNSWIMPGTIKENIIFGVSYDEYRYRSVIKACQ- LEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYK- DADLYLLDSPFGYLDVLTEKEIFESCVCKLMANK- TRILVTSKMEHLKKADKILILHEGSSYFYGTF- SELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRF- SLEGDAPVS.
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234
ABCC7 p.Phe494Asn
X
ABCC7 p.Phe494Asn 22701530:234:12
status:
NEW
view ABCC7 p.Phe494Asn details
NBD1-DF508 (
F494N
)-TTEVVMENVTAFWEEGFGELFE- KAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINF- KIERGQLLAVAGSTGAGKTSLLMMIMGELEPSEGKIKHS- GRISFCSQNSWIMPGTIKENIIGVSYDEYRYRSVIKACQ- LEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYK- DADLYLLDSPFGYLDVLTEKEIFESCVCKLMANK- TRILVTSKMEHLKKADKILILHEGSSYFYGTF- SELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRF- SLEGDAPVS.
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