4FQN


Conserved Protein Domain Family
CCM2_C

?
pfam16545: CCM2_C 
Click on image for an interactive view with Cn3D
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
?
PSSM-Id: 318696
View PSSM: pfam16545
Aligned: 11 rows
Threshold Bit Score: 146.41
Threshold Setting Gi: 762151574
Created: 29-Jul-2016
Updated: 4-Aug-2016
Structure
?
Program:
Drawing:
Aligned Rows:
PubMed ReferencesClick to see Conserved Features Help

Sequence Alignment
?
Format: Row Display: Color Bits: Type Selection:
                         10        20        30        40        50        60        70        80
                 ....*....|....*....|....*....|....*....|....*....|....*....|....*....|....*....|
4FQN_A         6 SESELSASATELLQDYMLTLRTKLSSQEIQQFAALLHEY-----RNGA-----------------------SIHEFCINL 57
gi 823471183 120 SGSDQSGAGLEQLQDYMVTLRNKLSPQEIQQFAILLREY-----RLGT-----------------------PVQEYCTEL 171
gi 973200896 424 SESEQSSVEVQLLQEYMITLRSKLSPPEIQQFALLLREY-----RMGA-----------------------HIEEFCSDL 475
gi 344244182 163 SSIDHSSWAFEQLQDYMVTLRSKLGPPEIQQFAMLLRDY-----RLGL-----------------------PIQDYCAGL 214
gi 847175717 295 SGAEEGNVALEQLQEYLATLRNKLTPMEIQRFAALLRQY-----RLGM-----------------------EVAEYCTEL 346
gi 557016651 433 SGSDHGNAVVEMLQEYMVTLRNKLSPLEIQEFALLLRKY-----RMGS-----------------------SVEKYCSEL 484
gi 657765031 449 ysetysessslslQDSHRSLASASDAGENNPALLLMQEY-----MITLrnklsplelqqfavllreyrlgsNIDHFCSEL 523
gi 260787255 293 SDISITPSAQELLQDYMSLLKTRLKTEELKQFALLLRQY-----RTSI-----------------------SVREFCIRL 344
gi 19684038  113 SESELSASATELLQDYMLTLRTKLSSQEIQQFAALLHEY-----RNGA-----------------------SIHEFCINL 164
gi 573903917 452 SESEQSSVEVQLLQEYMITLRSKLSPPEIQQFALLLREY-----RMGA-----------------------HIEEFCSDL 503
gi 762151574 232 SDASNQSIQAELLRSYLEQLRSKFTVDELAKFSTLLKQIndpspRSHK-----------------------DLLAVFQEV 288
                         90       100       110
                 ....*....|....*....|....*....|....*....
4FQN_A        58 RQLYGDSRKFLLLGLRPFIPEKDSQHFENFLETIGVKDG 96
gi 823471183 172 LHLYGDRRKFLLLGMRPFIPDQDIGYFETFLESIGIREG 210
gi 973200896 476 LQLYGDKRKFLLLGMRPFIPDKDVGVFESFLESIGIREG 514
gi 344244182 215 QKLYGDRRKFLLIGMRPFIPDQDIGYFESFLESVGIREG 253
gi 847175717 347 LHLYGESRKFLLLGLRPFIPDLDIGYFESFLENIGIREG 385
gi 557016651 485 LHLYGEKRKFLLLGMRPFIPDTDIGYFEQFLENIGIREG 523
gi 657765031 524 LQLYGDNRKFLLMGMRPFIPDKDVGVFEGFLESIGIREG 562
gi 260787255 345 KDLYREERKFLMAGMRPFIPEKDSQYFESFLESIGV-DG 382
gi 19684038  165 RQLYGDSRKFLLLGLRPFIPEKDSQHFENFLETIGVKDG 203
gi 573903917 504 LQLYGDKRKFLLLGMRPFIPDKDVGVFESFLESIGIREG 542
gi 762151574 289 FQLYGNERKNLLAGLCPFIYEKHYANFLDFLKKQGIAID 327
| Disclaimer | Privacy statement | Accessibility |
NCBI Home NCBI Search NCBI SiteMap