Sandbox Reserved 1124: Difference between revisions
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Several mutations in the SH2 domain can cause human diseases such as Noonan syndrome or basal cell carcinoma. For example, it can have a suppression of phosphotyrosine dependent interactions due to a mutation of the arginin residue at position 5 of the βB strand in the SH2 domain.<ref name="Kousik"/> This suppression can lead to a non-functioning signalling pathway. | Several mutations in the SH2 domain can cause human diseases such as Noonan syndrome or basal cell carcinoma. For example, it can have a suppression of phosphotyrosine dependent interactions due to a mutation of the arginin residue at position 5 of the βB strand in the SH2 domain.<ref name="Kousik"/> This suppression can lead to a non-functioning signalling pathway. | ||
In Alzheimer's disease, Grb2 and SOS1 are disrupted which mean that they both can play a role in this disease. For Grb2, it is its cellular distribution that is altered. <ref>PMID: 9878757</ref> | |||