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Details on Person Non-secretable F9 variant [endoplasmic reticulum lumen]

Class:IdCandidateSet:9670852
_displayNameNon-secretable F9 variant [endoplasmic reticulum lumen]
_timestamp2020-01-06 18:05:15
compartment[Compartment:17957] endoplasmic reticulum lumen
created[InstanceEdit:9670828] Shamovsky, Veronica, 2019-12-17
disease[Disease:9670882] hemophilia B
hasCandidate
hasMember
literatureReference[LiteratureReference:9670906] Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity
[LiteratureReference:9670806] The carboxyl-terminal region of factor IX is essential for its secretion
[LiteratureReference:9670691] Two novel mutations in EGF-like domains of human factor IX dramatically impair intracellular processing and secretion
[LiteratureReference:9670892] Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B
[LiteratureReference:9672428] Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function
[LiteratureReference:9672420] Apparent synonymous mutation F9 c.87A>G causes secretion failure by in-frame mutation with aberrant splicing
[LiteratureReference:9672824] Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations
[LiteratureReference:9672847] Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B
[LiteratureReference:9672822] Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations
[LiteratureReference:9672890] The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation
[LiteratureReference:9673136] Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants
modified[InstanceEdit:9672454] Shamovsky, Veronica, 2019-12-26
[InstanceEdit:9672834] Shamovsky, Veronica, 2020-01-03
[InstanceEdit:9672889] Shamovsky, Veronica, 2020-01-03
[InstanceEdit:9673155] Shamovsky, Veronica, 2020-01-06
nameNon-secretable F9 variant
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9670932] R-HSA-9670852.1
(diseaseEntity)[EntityFunctionalStatus:9670865] loss_of_function of Non-secretable F9 variant [endoplasmic reticulum lumen]
(input)[FailedReaction:9670888] F9 variant is not secreted [Homo sapiens]
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No pathways have been reviewed or authored by Non-secretable F9 variant [endoplasmic reticulum lumen] (9670852)
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