This domain position corresponds to position 12 of both the human HRAS and KRAS genes, from which many mutations have been implicated in diseases such as Costello syndrome [43-46] and Congenital myopathy [47,48] and have also been found to be mutated frequently in somatic tumor samples from patients with follicular thyroid carcinoma [49], pancreatic carcinoma [50], and Schimmelpenning-Feuerstein-Mims syndrome [51], as well as bladder [52], lung [53], and gastric cancers [54]. The gene discussed is HRAS; the disease is congenital myopathy with cores.