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p(HGNC:MAPT, var("p.Val337Met"))

Equivalencies: 0 | Classes: 0 | Children: 0 | Explore

Entity

Name
MAPT
Namespace
hgnc
Namespace Version
20180906
Namespace URL
https://raw.githubusercontent.com/pharmacome/terminology/b46b65c3da259b6e86026514dfececab7c22a11b/external/hgnc-names.belns

Appears in Networks 3

Tau Protein Hyperphosphorylation and Aggregation in Alzheimer’s Disease and Other Tauopathies, and Possible Neuroprotective Strategies v1.0.0

Tau Modifications v1.9.5

Tau Modifications Sections of NESTOR

Tau in physiology and pathology v1.0.0

In-Edges 2

p(HGNC:MAPT) hasVariant p(HGNC:MAPT, var("p.Val337Met")) View Subject | View Object

Appears in Networks:

path(MESH:"Frontotemporal Dementia") positiveCorrelation p(HGNC:MAPT, var("p.Val337Met")) View Subject | View Object

Poorkaj et al. reported two exonic mutations (P301L and V337M) in two families with FTDP-17 [139], while Hutton et al. reported six different mutations in 10 families: three of these mutations (G272V, P301L and R406W) were missense mutations in exons, while the other three were in the 5' splice site of exon 10 [140]. PubMed:26751493

Appears in Networks:

Out-Edges 3

p(HGNC:MAPT, var("p.Val337Met")) positiveCorrelation path(MESH:"Frontotemporal Dementia") View Subject | View Object

Poorkaj et al. reported two exonic mutations (P301L and V337M) in two families with FTDP-17 [139], while Hutton et al. reported six different mutations in 10 families: three of these mutations (G272V, P301L and R406W) were missense mutations in exons, while the other three were in the 5' splice site of exon 10 [140]. PubMed:26751493

Appears in Networks:

p(HGNC:MAPT, var("p.Val337Met")) decreases complex(a(GO:microtubule), p(HGNC:MAPT)) View Subject | View Object

Tau protein with mutations in or near the microtubule-binding domain (for instance, G272V, N279K, ΔK280, P301L, V337M or R406W) tend to have a reduced affinity for microtubules and an increased tendency for aggregation PubMed:26631930

Appears in Networks:

p(HGNC:MAPT, var("p.Val337Met")) increases a(HBP:"Tau aggregates") View Subject | View Object

Tau protein with mutations in or near the microtubule-binding domain (for instance, G272V, N279K, ΔK280, P301L, V337M or R406W) tend to have a reduced affinity for microtubules and an increased tendency for aggregation PubMed:26631930

Appears in Networks:

About

BEL Commons is developed and maintained in an academic capacity by Charles Tapley Hoyt and Daniel Domingo-Fernández at the Fraunhofer SCAI Department of Bioinformatics with support from the IMI project, AETIONOMY. It is built on top of PyBEL, an open source project. Please feel free to contact us here to give us feedback or report any issues. Also, see our Publishing Notes and Data Protection information.

If you find BEL Commons useful in your work, please consider citing: Hoyt, C. T., Domingo-Fernández, D., & Hofmann-Apitius, M. (2018). BEL Commons: an environment for exploration and analysis of networks encoded in Biological Expression Language. Database, 2018(3), 1–11.