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Mutations on the Protein: P36897 From Positions: 478 To 503

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Swiss-Prot Disease: VAR_022347
p.ARG487PRO
N/A
N/A
Loeys-Dietz syndrome 2A (LDS2A)


Swiss-Prot Disease: VAR_029485
p.ARG487TRP
N/A
N/A
Loeys-Dietz syndrome 2A (LDS2A)


OMIM Disease: 190181.0006
p.ARG487GLN
N/A
N/A
LOEYS-DIETZ SYNDROME, TYPE 2A


OMIM Disease: 190181.0004
p.ARG487PRO
N/A
N/A
LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A, INCLUDED


OMIM Disease: 190181.0007
p.ARG487TRP
N/A
N/A
LOEYS-DIETZ SYNDROME, TYPE 2A






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