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. 2021 Mar 22;10(3):704. doi: 10.3390/cells10030704

Table 1.

Summary of cerebral cavernous malformation (CCM) genes and relative proteins. The number of identified mutations is referred to data included in the Human Gene Mutation Database (HGMD) [32].

Gene. OMIM Genetic
Locus
Protein UniProt Identified
Mutations
CCM1/KRIT1 #604214 7q21.2 KRIT1 #O00522 >300
CCM2/MGC4607 #607929 7p13 Malcavernin #Q9BSQ5 >90
CCM3/PDCD10 #609118 3q26.1 PDCD10/TFAR15 #Q9BUL8 >70