ABCC8 p.Val560Gly
| ClinVar: |
c.1678G>A
,
p.Val560Met
N
, Likely benign
|
| Predicted by SNAP2: | A: N (93%), C: N (87%), D: N (66%), E: N (66%), F: D (80%), G: N (87%), H: N (72%), I: D (66%), K: N (66%), L: N (82%), M: D (71%), N: N (72%), P: N (57%), Q: N (72%), R: N (66%), S: N (87%), T: N (82%), W: D (53%), Y: N (78%), |
| Predicted by PROVEAN: | A: N, C: N, D: D, E: D, F: N, G: N, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: N, T: N, W: D, Y: N, |
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[hide] [Current concepts and treatment advances in system... Rev Med Interne. 2009 Jan;30(1):25-34. Epub 2008 Apr 10. Georgin-Lavialle S, Barete S, Suarez F, Lepelletier Y, Bodemer C, Dubreuil P, Lortholary O, Hermine O
[Current concepts and treatment advances in systemic mastocytosis].
Rev Med Interne. 2009 Jan;30(1):25-34. Epub 2008 Apr 10., [PMID:18406017]
Abstract [show]
PURPOSE: Mast cell disorders are defined by an abnormal accumulation of tissue mast cells in one or more organ systems. Clinical symptoms in mastocytosis result from mast cells derived mediators and, less frequently, from destructive infiltration of mast cells. Systemic mastocytosis is regressive among children, whereas the disease is persistent among adults. A clonal haematological non-mast cell lineage disease can be associated. The clinical course in these patients is variable ranging from asymptomatic for years to highly aggressive and rapidly devastating. Until recently, the only treatment of this incurable disease was symptomatic. CURRENT KNOWLEDGE AND KEY POINTS: Recent advances were done in understanding the physiopathology of this myeloproliferative syndrome which results from an activating mutation of the stem cell factor receptor: C-Kit. A somatic C-Kit mutation is usually detectable in mast cells and their progenitors. Different mutations were found and the mutation D816V is the most frequent. Their specific transduction paths were also studied. Diagnosis of systemic mastocytosis does not only rest upon pathological examination but also on molecular as well as immunological and immunochemical tools. FUTURE PROSPECTS AND PROJECTS: Physiopathological advancements led to suggest new treatments in order to directly inhibit proliferative paths of masts cells such as tyrosine kinase inhibitors and rapamycin.
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No. Sentence Comment
58 Rarement des mutations dans le domaine juxtamembranaire de C-Kit sont aussi décrites : Val560Gly, Phe522Cys, Asp509Tyr [12-14].
X
ABCC8 p.Val560Gly 18406017:58:92
status: NEW210 En revanche, les mutations du domaine juxtamembranaire, plus rares, Val560Gly [13], Phe522Cys [12] et Asp509Tyr [14], sont sensibles à l`imatinib mesylate.
X
ABCC8 p.Val560Gly 18406017:210:68
status: NEW233 D`autres voies de blocage de l`activation de C-Kit muté sont actuellement explorées : IMD-0354, qui inhibe NF-kappa-B, pourrait être actif sur les mastocytoses présentant une mutation de C-Kit de type D816V ou Val560Gly [56].
X
ABCC8 p.Val560Gly 18406017:233:230
status: NEW