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Results for the Protein: P78504
20455033
182

JAG1_HUMAN RecName: Full=Protein jagged-1; Short=Jagged1; Short=hJ1; AltName: CD_antigen=CD339; Flags: Precursor

Known Diseases associated with this Protein:
  ALAGILLE SYNDROME 1
  ALAGILLE SYNDROME 1 (ALGS1)
  DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON
  TETRALOGY OF FALLOT
  TETRALOGY OF FALLOT (TOF)
56
12
5
2
61
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

MNNL - pfam07657
DSL - smart00051
EGF_CA - smart00179
EGF - smart00181
EGF_CA - pfam07645
EGF_2 - pfam07974
VWC_out - smart00215
VWC - smart00214


Swiss-Prot Protein: P78504
Identical to: NP_000205
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MNNLpfam076571.1e-4931110
DSLsmart000512.8e-39167229
EGF_CAsmart001791.4e-10296334
EGFsmart001815e-09299334
EGFsmart001812.7e-07339372
EGF_CAsmart001790.00083340372
EGF_CAsmart001799.6e-15374410
EGFsmart001811.3e-10377410
EGF_CAsmart001794.2e-13412448
EGFsmart001814.2e-08415448
EGF_CAsmart001791.2e-11450485
EGFsmart001817.4e-09453485
EGF_CApfam076450.0002487522
EGF_CAsmart001796.8e-16487523
EGFsmart001812.2e-10490523
EGF_CAsmart001792.4e-11525561
EGFsmart001811.6e-08528561
EGF_CAsmart001791.1e-15629665
EGFsmart001812.1e-11632665
EGF_2pfam079744.1e-05633664
EGF_CAsmart001791.4e-13667703
EGFsmart001818.6e-11670703
EGFsmart001810.00023708741
EGFsmart001811.8e-09747780
EGF_CAsmart001792.2e-10782818
EGFsmart001811.8e-08785818
EGF_CAsmart001791.4e-15820856
EGFsmart001815.7e-10823856
VWCsmart002142.3e-20863930
VWC_outsmart002153.4e-36863930

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_026312Diseasep.ALA155PROAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_013188Diseasep.ALA127THRAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026297Diseasep.ALA31VALAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_013192Diseasep.ARG184CYSAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026337Polymorphismp.ARG1213GLNN/A
Swiss-ProtVAR_026329Diseasep.ARG889GLNAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026335Diseasep.ARG937GLNAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_013193Diseasep.ARG184GLYAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026319Diseasep.ARG252GLYAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_013194Diseasep.ARG184HISAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_013195Diseasep.ARG184LEUAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026316Polymorphismp.ARG203LYSN/A
Swiss-ProtVAR_026327Polymorphismp.ARG818LYSN/A
Swiss-ProtVAR_026304Polymorphismp.ASN53ASPN/A
Swiss-ProtVAR_026323Diseasep.ASN504SERAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026322Diseasep.CYS271ARGAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_013206Diseasep.CYS740ARGAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_013207Diseasep.CYS753ARGAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026308Diseasep.CYS92ARGAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_013198Diseasep.CYS229GLYAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_013197Diseasep.CYS220PHEAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_013201Diseasep.CYS284PHEAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_013204Diseasep.CYS438PHEAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_013196Diseasep.CYS187SERAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_013205Diseasep.CYS731SERAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026307Diseasep.CYS78SERAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026330Diseasep.CYS902SERAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026315Diseasep.CYS187TYRAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_013199Diseasep.CYS229TYRAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026318Polymorphismp.CYS234TYRN/A
Swiss-ProtVAR_026325Diseasep.CYS693TYRAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026326Diseasep.CYS714TYRAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026332Diseasep.CYS911TYRAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026309Diseasep.CYS92TYRAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_013203Diseasep.GLY386ARGAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_013200Diseasep.GLY274ASPTetralogy of Fallot (TOF)
Swiss-ProtVAR_026298Diseasep.GLY33ASPAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026320Diseasep.GLY256SERAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026299Diseasep.GLY33SERAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026300Diseasep.GLY33VALAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026331Polymorphismp.HIS908GLNN/A
Swiss-ProtVAR_026310Diseasep.ILE120ASNAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026301Diseasep.ILE39SERAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_013190Diseasep.ILE152THRAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_013187Diseasep.LEU79HISAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026302Diseasep.LEU40PROAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026334Polymorphismp.LEU921PRON/A
Swiss-ProtVAR_013186Diseasep.LEU37SERAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026305Polymorphismp.LYS65METN/A
Swiss-ProtVAR_026306Diseasep.PHE75SERAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_013189Diseasep.PRO129ARGAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026313Diseasep.PRO163ARGAlagille syndrome 1 (ALGS1)
dbSNPrs35761929 Polymorphismp.PRO871ARGN/A
Swiss-ProtVAR_013191Diseasep.PRO163LEUAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026321Diseasep.PRO269LEUAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026311Diseasep.PRO123SERAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026333Diseasep.SER913ARGAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026317Diseasep.TRP224CYSAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_013202Diseasep.TRP288CYSAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026314Diseasep.TYR181ASNAlagille syndrome 1 (ALGS1)
Swiss-ProtVAR_026324Polymorphismp.TYR690ASPN/A
dbSNPrs6040067 Polymorphismp.VAL146ILEN/A
Swiss-ProtVAR_026303Polymorphismp.VAL45LEUN/A
OMIM601920.0005 Diseasep.ARG184CYSALAGILLE SYNDROME 1
OMIM601920.0006 Diseasep.ARG184HISALAGILLE SYNDROME 1
OMIM601920.0012 Diseasep.CYS234TYRDEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON
OMIM601920.0010 Diseasep.GLY274ASPTETRALOGY OF FALLOT
OMIM601920.0011 Diseasep.LEU37SERALAGILLE SYNDROME 1



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