Results for the protein: Q9BSQ5

Results for the Protein: Q9BSQ5

74733042

83605

CCM2

NCBI, UniProt

CCM2_HUMAN RecName: Full=Malcavernin; AltName: Full=Cerebral cavernous malformations 2 protein

Known Diseases associated with this Protein:
CEREBRAL CAVERNOUS MALFORMATIONS 2
CEREBRAL CAVERNOUS MALFORMATIONS 2 (CCM2)

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Default View: PTB - smart00462	Swiss-Prot Protein: Q9BSQ5 Identical to: NP_113631 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_067352	Disease	p.GLN215HIS	Cerebral cavernous malformations 2 (CCM2)
Swiss-Prot	VAR_023577	Disease	p.LEU198ARG	Cerebral cavernous malformations 2 (CCM2)
Swiss-Prot	VAR_067353	Disease	p.LEU229GLN	Cerebral cavernous malformations 2 (CCM2)
dbSNP	rs2289366	Polymorphism	p.SER289ASN	N/A
dbSNP	rs11552377	Polymorphism	p.VAL120ILE	N/A
dbSNP	rs2107732	Polymorphism	p.VAL53ILE	N/A
OMIM	607929.0002	Disease	p.GLN86TER	CEREBRAL CAVERNOUS MALFORMATIONS 2
OMIM	607929.0007	Disease	p.LEU177ARG	CEREBRAL CAVERNOUS MALFORMATIONS 2

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