Skip Header


proteinannotationbegintext"437"xsd:intIn FA7D."1699"xsd:intIn HEMA; moderate."138"xsd:intProbable disease-associated mutation found in patients with atrial fibrillation."182"xsd:intIn EIEE43."36"xsd:intIn Philly; O(2) affinity up; unstable."586"xsd:intRare variant found in a congenital erythropoietic porphyria patient that also carries UROS mutations R-73 and Q-248; increased enzyme activity."279"xsd:intIn IMGT allele IGHA2*01."226"xsd:intIn variant ZUC and WIS."186"xsd:intIn EKVP4."455"xsd:intIn GSD2; juvenile form; almost complete loss of activity."640"xsd:intIn a breast cancer sample; somatic mutation."339"xsd:intIn CMD1KK."766"xsd:intIn a lung carcinoma sample; somatic mutation."126"xsd:intIn a sporadic cancer; somatic mutation."163"xsd:intIn a sporadic cancer; somatic mutation."220"xsd:intIn a sporadic cancer; somatic mutation."234"xsd:intIn a sporadic cancer; somatic mutation."236"xsd:intIn a sporadic cancer; somatic mutation."205"xsd:intIn sporadic cancers; somatic mutation."144"xsd:intFound in a malignant melanoma cell line."317"xsd:intIn XLHR."412"xsd:intIn a colorectal cancer."1329"xsd:intIn a colorectal cancer."175"xsd:intIn FALBI."791"xsd:intIn HSCR1, pheochromocytoma, MTC and MEN2A; familial form.