Annotation Detail
Information
- Associated Genes
- PTPN11
- Associated Variants
-
PTPN11 p.Ala72Thr (p.A72T)
(
ENST00000351677.7,
ENST00000392597.5,
ENST00000635625.1,
ENST00000639857.2,
ENST00000687906.1,
ENST00000688597.1,
ENST00000690210.1 )
PTPN11 p.Ala72Pro (p.A72P) ( ENST00000690210.1, ENST00000635625.1, ENST00000639857.2, ENST00000688597.1, ENST00000392597.5, ENST00000351677.7, ENST00000687906.1 )
PTPN11 p.Ala72Ser (p.A72S) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu76Lys (p.E76K) ( ENST00000392597.5, ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu76Gln (p.E76Q) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000690210.1, ENST00000687906.1, ENST00000688597.1 )
PTPN11 p.Glu76Asp (p.E76D) ( ENST00000687906.1, ENST00000351677.7, ENST00000392597.5, ENST00000688597.1, ENST00000639857.2, ENST00000635625.1, ENST00000690210.1 )
PTPN11 p.Glu76Asp (p.E76D) ( ENST00000687906.1, ENST00000351677.7, ENST00000688597.1, ENST00000392597.5, ENST00000690210.1, ENST00000639857.2, ENST00000635625.1 )
PTPN11 p.Ala72Thr (p.A72T) ( ENST00000639857.2, ENST00000687906.1, ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Ala72Pro (p.A72P) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Ala72Ser (p.A72S) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu76Lys (p.E76K) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu76Gln (p.E76Q) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu76Asp (p.E76D) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu76Asp (p.E76D) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 ) - Associated Disease
- Noonan syndrome
- Source Database
- DisGeNET
- Description
- Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays.
- Pubmed
- 17177198
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.694446819376149
- Year of publication
- 2007
Drugs