Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q14767
296439311

LTBP2_HUMAN RecName: Full=Latent-transforming growth factor beta-binding protein 2; Short=LTBP-2; Flags: Precursor

Known Diseases associated with this Protein:
  GLAUCOMA 3, PRIMARY CONGENITAL, D
  MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH
  OR WITHOUT SECON
  OR WITHOUT SECONDARY GLAUCOMA
  WEILL-MARCHESANI SYNDROME 3
  WEILL-MARCHESANI SYNDROME 3 (WMS3)
6
4
5
2
3
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

EGF_2 - pfam07974
TB - pfam00683
EGF_CA - smart00179
EGF_CA - cd00054
EGF_CA - pfam07645
EGF - cd00053
EGF - smart00181
EGF - pfam00008


Swiss-Prot Protein: Q14767
Identical to: NP_000419
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EGF_CAcd000542.3e-15622662
EGFcd000539.3e-10625662
EGF_CAcd000541.2e-10844886
EGFcd000537.3e-09847886
EGF_CAcd000542.3e-12887929
EGFcd000534.8e-08890929
EGF_CAcd000541e-14930969
EGFcd000532.8e-09933969
EGF_CAcd000543.8e-129701009
EGFcd000531.3e-079731009
EGF_CAcd000541.6e-1410101050
EGFcd000531.4e-0910131050
EGF_CAcd000549.7e-1210511092
EGFcd000531.2e-0510541092
EGF_CAcd000541.8e-1110931134
EGFcd000531.7e-0510961134
EGF_CAcd000544.4e-1611351175
EGFcd000535e-1111381175
EGF_CAcd000543.9e-1111761217
EGFcd000531e-0711791217
EGF_CAcd000543.6e-1312181258
EGFcd000532.9e-0812211258
EGF_CAcd000544e-1012591302
EGFcd000530.0007212621302
EGF_CAcd000545.4e-1113031344
EGFcd000533.1e-0813061344
EGF_CAcd000544.3e-0613451387
EGF_CAcd000541.1e-1214851527
EGFcd000537.7e-1014881527
EGF_CAcd000544.7e-1015281567
EGFcd000534.6e-0715311567
EGF_CAcd000540.0001717331773
EGFcd000532.6e-0717361773
EGF_CAcd000544.2e-1017741818
EGFcd000539e-0617771818
TBpfam006830.0002561606
TBpfam006831.8e-17681723
EGFpfam000084.8e-07891925
EGFpfam000080.0001934964
EGFpfam000087.6e-0511391170
TBpfam006832.1e-1214211462
EGFpfam000080.0001115321565
TBpfam006833.2e-1115931635
EGFpfam000081.6e-0517371769
EGF_2pfam079742.2e-05191218
EGF_CApfam076452.6e-08622661
EGF_CAsmart001797.5e-15622662
EGFsmart001815.2e-09625662
EGF_CAsmart001797.4e-10844886
EGFsmart001813.8e-09847886
EGF_CAsmart001793.3e-13887927
EGFsmart001811.1e-06890929
EGF_CApfam076454.1e-10930968
EGF_CAsmart001797.8e-15930969
EGFsmart001811.8e-08933969
EGF_CApfam076452.3e-109701008
EGF_CAsmart001795e-119701009
EGFsmart001813.3e-089731009
EGF_CApfam076451.4e-1210101049
EGF_CAsmart001791.3e-1510101050
EGFsmart001815.9e-1010131050
EGF_CApfam076453.6e-1610511091
EGF_CAsmart001791.3e-1210511092
EGFsmart001816.2e-0710541092
EGF_CApfam076452.6e-1410931133
EGF_CAsmart001799.4e-1210931134
EGFsmart001811.4e-0610961134
EGF_CApfam076451.5e-1311351174
EGF_CAsmart001791.5e-1611351175
EGFsmart001817.2e-1011381175
EGF_CApfam076454e-0811761216
EGF_CAsmart001798e-1211761217
EGFsmart001811.7e-0611791217
EGF_CApfam076459.6e-1412181257
EGF_CAsmart001792e-1312181258
EGFsmart001817.3e-0712211258
EGF_CApfam076456.3e-0712591301
EGF_CAsmart001794.3e-1012591302
EGF_CApfam076453.4e-0913031343
EGF_CAsmart001793.4e-1213031344
EGFsmart001811.9e-0713061344
EGF_CApfam076453.9e-0613451386
EGF_CAsmart001793.8e-0613451387
EGF_CAsmart001791.3e-1314851527
EGFsmart001816.7e-1014881527
EGF_CAsmart001791.1e-1015281567
EGFsmart001811.4e-0615311567
EGF_CAsmart001790.0002617331773
EGFsmart001812.1e-0717361773
EGF_CApfam076455.2e-0617741817
EGF_CAsmart001795.8e-1117741818
EGFsmart001819e-0617771818

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_059270Polymorphismp.ARG37METN/A
dbSNPrs61505039 Polymorphismp.GLY1088SERN/A
dbSNPrs2304707 Polymorphismp.PRO319GLNN/A
Swiss-ProtVAR_060337Polymorphismp.PRO591SERN/A
Swiss-ProtVAR_068647Diseasep.VAL1177METWeill-Marchesani syndrome 3 (WMS3)
OMIM602091.0001 Diseasep.ARG299TERGLAUCOMA 3, PRIMARY CONGENITAL, D||MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH||OR WITHOUT SECON
OMIM602091.0011 Diseasep.CYS1438TYRMICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH||OR WITHOUT SECONDARY GLAUCOMA
OMIM602091.0004 Diseasep.GLN111TERGLAUCOMA 3, PRIMARY CONGENITAL, D
OMIM602091.0010 Diseasep.GLN1619TERMICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH||OR WITHOUT SECONDARY GLAUCOMA
OMIM602091.0012 Diseasep.VAL1177METWEILL-MARCHESANI SYNDROME 3



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258