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Results for the Protein: Q9NYQ6
22095551

CELR1_HUMAN RecName: Full=Cadherin EGF LAG seven-pass G-type receptor 1; AltName: Full=Cadherin family member 9; AltName: Full=Flamingo homolog 2; Short=hFmi2; Flags: Precursor

Known Diseases associated with this Protein:
  NEURAL TUBE DEFECTS (NTD)
4
18
0
17
5
Tips:
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Default View:

CA - smart00112
EGF_CA - smart00179
EGF - smart00181
LamG - smart00282
EGF_Lam - smart00180
HormR - smart00008
DUF3497 - pfam12003
GPS - smart00303


Swiss-Prot Protein: Q9NYQ6
Identical to: NP_055061
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CAsmart001122e-19273351
CAsmart001121.2e-27378457
CAsmart001123.8e-25484563
CAsmart001122.2e-24590685
CAsmart001123.2e-15712787
CAsmart001124.4e-28814890
CAsmart001121.9e-31917997
CAsmart001122.4e-2110241099
EGF_CAsmart001791.6e-0713631399
EGFsmart001813.7e-0613661399
EGFsmart001817.9e-0714061441
EGF_CAsmart001790.0001314071441
LamGsmart002827.5e-6114621629
EGF_CAsmart001792.9e-0616491685
EGFsmart001816.6e-0716521685
LamGsmart002825.5e-1817111849
EGF_CAsmart001791.2e-0518711908
EGFsmart001815.3e-0718751908
EGF_Lamsmart001808.3e-1320032048
HormRsmart000089.7e-2020512113
DUF3497pfam120038.5e-9721222382
GPSsmart003032.2e-2524072460

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067213Diseasep.ALA773VALNeural tube defects (NTD)
Swiss-ProtVAR_067215Diseasep.ARG2438GLNNeural tube defects (NTD)
dbSNPrs34267201 Polymorphismp.ARG2219HISN/A
Swiss-ProtVAR_067214Polymorphismp.ARG2312PRON/A
Swiss-ProtVAR_067216Polymorphismp.ASN2739THRN/A
dbSNPrs4823561 Polymorphismp.CYS1126ARGN/A
dbSNPrs12165943 Polymorphismp.CYS2797SERN/A
dbSNPrs9615351 Polymorphismp.GLU2903GLNN/A
dbSNPrs35364389 Polymorphismp.GLY2948SERN/A
dbSNPrs4044210 Polymorphismp.ILE2107VALN/A
Swiss-ProtVAR_049464Polymorphismp.ILE587VALN/A
dbSNPrs6008795 Polymorphismp.LEU1994PRON/A
dbSNPrs6008794 Polymorphismp.LEU1995PRON/A
dbSNPrs11575871 Polymorphismp.LEU556VALN/A
dbSNPrs61741871 Diseasep.PRO2983ALANeural tube defects (NTD)
dbSNPrs6008777 Diseasep.SER2964LEUNeural tube defects (NTD)
dbSNPrs4823850 Polymorphismp.SER664TRPN/A
dbSNPrs6007897 Polymorphismp.THR2268ALAN/A
dbSNPrs12169391 Polymorphismp.THR2045METN/A
dbSNPrs34467708 Polymorphismp.TYR1894HISN/A
dbSNPrs6008842 Polymorphismp.VAL1242ILEN/A
dbSNPrs75983687 Polymorphismp.VAL2703METN/A



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