Conserved Protein Domain Family
CCM2_C

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pfam16545: CCM2_C (This model is not part of the current CDD release)
Cerebral cavernous malformation protein, harmonin-homology
CCM2_HHD is a folded-helical region of a family of vertebral proteins, mutations in which cause cerebral cavernous malformations (CCMs). These malformations are congenital vascular anomalies of the central nervous system that can result in haemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. This domain is structurally homologous to the N-terminal domain of harmonin, so it is named the CCM2 harmonin-homology domain or CCM2_HHD. This protein is often called Malcavernin.
Statistics
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PSSM-Id: 522394
Aligned: 6 rows
Threshold Bit Score: 192.307
Created: 17-Feb-2025
Updated: 28-Apr-2025
Structure
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Aligned Rows:
PubMed ReferencesClick to see Conserved Features Help

Sequence Alignment
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Format: Row Display: Color Bits: Type Selection:
KAI2545806   190 SESELSASATELLQDYMLTLRTKLSSQEIQQFAALLHEYRNGASIHEFCINLRQLYGDSRKFLLLGLRPFIPEKDSQHFE 269
XP_006008753 433 SGSDHGNAVVEMLQEYMVTLRNKLSPLEIQEFALLLRKYRMGSSVEKYCSELLHLYGEKRKFLLLGMRPFIPDTDIGYFE 512
EGW00286     163 SSIDHSSWAFEQLQDYMVTLRSKLGPPEIQQFAMLLRDYRLGLPIQDYCAGLQKLYGDRRKFLLIGMRPFIPDQDIGYFE 242
XP_014325310 449 SDGADSNPALLLMQEYMITLRNKLNPLELQQFAVLLREYRLGSNIDHFCSELLQLYGDKRKFLLLGMRPFIPDKDVGVFE 528
XP_006639681 452 SESEQSSVEVQLLQEYMITLRSKLSPPEIQQFALLLREYRMGAHIEEFCSDLLQLYGDKRKFLLLGMRPFIPDKDVGVFE 531
XP_040506925 348 sgsdqssvgleqlqdyMVTLRNKLSPQEIQQFALMLREYRLGMSVQEYCAELLRLYGDRRKFLLLGMRPFIPDQDIGYFE 427 chicken
KAI2545806   270 NFLETIGVKDGrGIITDSFGR 290
XP_006008753 513 QFLENIGIREG-GILTDSFGR 532
EGW00286     243 SFLESVGIREG-GILTDSFGR 262
XP_014325310 529 EFLESIGIREG-GILTDSFGR 548
XP_006639681 532 SFLESIGIREG-GILTDSFGR 551
XP_040506925 428 TFLESIGIREG-GILTDSFGR 447 chicken
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