While arginine at position 521 (R mutated to G, H, or C) is most commonly mutated8, the P525L mutation is associated with aggressive juvenile-onset ALS9,10.
A somatic MAP3K3 mutation is associated with verrucous venous malformation.
Kambara, T. et al. BRAF mutation is associated with DNA methylation in serrated polyps and cancers of the colorectum.
To investigate whether the FIIA20210 mutation is associated with isolated pulmonaryembolism (PE).
Hepatitis B virus (HBV) precore G1896A mutation is associated with Hepatitis B e antigen (HBeAg) seroconversion.
We further observed that, p.Val59Met mutation is associated with the aggregation and thus causing HH.
Liu, G. S. et al. A novel human R25C-phospholamban mutation is associated with super-inhibition of calcium cycling and ventricular arrhythmia.
Kato T, Tamiya G, Koyama S, et al. UBR5 gene mutation is associated with familial adult myoclonic epilepsy in a Japanese family.
Wu S, Gan Y, Wang X, Liu J, Li M, Tang Y. PIK3CA mutation is associated with poor survival among patients with metastatic colorectal cancer following anti-EGFR monoclonal antibody therapy: a meta-analysis.
The other mutation is associated with loss of PLB function (L39stop) and results in dilated cardiomyopathy and premature death in the homozygous, opposite to what is seen in mice50.
In severe EBS, the mutation is associated with aggregates of nonfilamentous keratin protein, and cell lines carrying such mutations show a constitutively activated stress response.
