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Results for the Protein: O75443
313104280

TECTA_HUMAN RecName: Full=Alpha-tectorin; Flags: Precursor

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL DOMINANT 12
  DEAFNESS, AUTOSOMAL DOMINANT, 12 (DFNA12)
38
10
9
5
34
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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



Default View:

NIDO - smart00539
NIDO - pfam06119
VWD - smart00216
VWD - pfam00094
C8 - smart00832
C8 - pfam08742
TIL - pfam01826
VWC_out - smart00215
ZP - smart00241
Zona_pellucida - pfam00100


Swiss-Prot Protein: O75443
Identical to: NP_005413
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TILpfam018262.5e-19597650
VWDpfam000943.3e-37713866
TILpfam018265.6e-159841036
VWDpfam000946.1e-4511001258
TILpfam018261.9e-1813721425
VWDpfam000941.5e-4414871639
Zona_pellucidapfam001006.4e-6518052059
NIDOsmart005392.9e-7798254
NIDOpfam061191.3e-49163252
VWDsmart002166.5e-59312477
C8pfam087422.1e-29517592
C8smart008322.5e-35517592
VWDsmart002163.7e-39703865
C8pfam087421.4e-29905981
C8smart008324.2e-23905981
VWDsmart002162.6e-5210901257
C8pfam087425.3e-2912941369
C8smart008321e-1812941369
VWC_outsmart002152e-1814271487
VWDsmart002167.2e-4214771638
C8pfam087422.8e-2016841758
C8smart008321.5e-1216841758
ZPsmart002414.7e-8018052059

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_066085Diseasep.ALA1098VALDeafness, autosomal dominant, 12 (DFNA12)
Swiss-ProtVAR_066094Diseasep.ARG1890CYSDeafness, autosomal dominant, 12 (DFNA12)
Swiss-ProtVAR_066096Diseasep.ARG1947CYSDeafness, autosomal dominant, 12 (DFNA12)
dbSNPrs612969 Polymorphismp.ARG371GLYN/A
Swiss-ProtVAR_018977Diseasep.ARG2021HISDeafness, autosomal dominant, 12 (DFNA12)
Swiss-ProtVAR_036423Polymorphismp.ARG284HISN/A
Swiss-ProtVAR_066080Diseasep.ASN465LYSDeafness, autosomal dominant, 12 (DFNA12)
Swiss-ProtVAR_066083Diseasep.ASN886SERDeafness, autosomal dominant, 12 (DFNA12)
Swiss-ProtVAR_036425Polymorphismp.ASN813THRN/A
Swiss-ProtVAR_066076Diseasep.ASP197ASNDeafness, autosomal dominant, 12 (DFNA12)
Swiss-ProtVAR_066086Diseasep.ASP1136HISDeafness, autosomal dominant, 12 (DFNA12)
Swiss-ProtVAR_066089Diseasep.CYS1517ARGDeafness, autosomal dominant, 12 (DFNA12)
Swiss-ProtVAR_066091Diseasep.CYS1837ARGDeafness, autosomal dominant, 12 (DFNA12)
Swiss-ProtVAR_066095Diseasep.CYS1898ARGDeafness, autosomal dominant, 12 (DFNA12)
Swiss-ProtVAR_066088Diseasep.CYS1509GLYDeafness, autosomal dominant, 12 (DFNA12)
Swiss-ProtVAR_018975Diseasep.CYS1837GLYDeafness, autosomal dominant, 12 (DFNA12)
Swiss-ProtVAR_018970Diseasep.CYS1057SERDeafness, autosomal dominant, 12 (DFNA12)
Swiss-ProtVAR_018971Diseasep.CYS1619SERDeafness, autosomal dominant, 12 (DFNA12)
Swiss-ProtVAR_066084Diseasep.CYS1036TYRDeafness, autosomal dominant, 12 (DFNA12)
dbSNPrs35507522 Polymorphismp.GLN19ARGN/A
Swiss-ProtVAR_018974Diseasep.GLY1824ASPDeafness, autosomal dominant, 12 (DFNA12)
Swiss-ProtVAR_066093Diseasep.HIS1867ARGDeafness, autosomal dominant, 12 (DFNA12)
Swiss-ProtVAR_036424Polymorphismp.ILE771ASNN/A
Swiss-ProtVAR_066097Diseasep.ILE2009THRDeafness, autosomal dominant, 12 (DFNA12)
Swiss-ProtVAR_018973Diseasep.LEU1820PHEDeafness, autosomal dominant, 12 (DFNA12)
Swiss-ProtVAR_066077Diseasep.PHE211SERDeafness, autosomal dominant, 12 (DFNA12)
Swiss-ProtVAR_066090Diseasep.PRO1791ARGDeafness, autosomal dominant, 12 (DFNA12)
Swiss-ProtVAR_066087Diseasep.PRO1248LEUDeafness, autosomal dominant, 12 (DFNA12)
dbSNPrs2155369 Polymorphismp.SER1878ARGN/A
Swiss-ProtVAR_018972Polymorphismp.SER1724ASNN/A
Swiss-ProtVAR_066079Diseasep.SER362CYSDeafness, autosomal dominant, 12 (DFNA12)
dbSNPrs34963131 Polymorphismp.SER1584THRN/A
Swiss-ProtVAR_018978Polymorphismp.SER2100THRN/A
Swiss-ProtVAR_066092Diseasep.THR1866METDeafness, autosomal dominant, 12 (DFNA12)
Swiss-ProtVAR_066081Diseasep.THR562METDeafness, autosomal dominant, 12 (DFNA12)
Swiss-ProtVAR_066082Diseasep.THR815METDeafness, autosomal dominant, 12 (DFNA12)
Swiss-ProtVAR_018976Diseasep.TYR1870CYSDeafness, autosomal dominant, 12 (DFNA12)
dbSNPrs520805 Polymorphismp.VAL932ALAN/A
Swiss-ProtVAR_066078Diseasep.VAL317GLUDeafness, autosomal dominant, 12 (DFNA12)
OMIM602574.0010 Diseasep.ARG1890CYSDEAFNESS, AUTOSOMAL DOMINANT 12
OMIM602574.0009 Diseasep.ARG2021HISDEAFNESS, AUTOSOMAL DOMINANT 12
OMIM602574.0011 Diseasep.CYS1837ARGDEAFNESS, AUTOSOMAL DOMINANT 12
OMIM602574.0008 Diseasep.CYS1837GLYDEAFNESS, AUTOSOMAL DOMINANT 12
OMIM602574.0004 Diseasep.CYS1057SERDEAFNESS, AUTOSOMAL DOMINANT 12
OMIM602574.0005 Diseasep.CYS1619SERDEAFNESS, AUTOSOMAL DOMINANT 12
OMIM602574.0001 Diseasep.GLY1824ASPDEAFNESS, AUTOSOMAL DOMINANT 12
OMIM602574.0001 Diseasep.LEU1820THRDEAFNESS, AUTOSOMAL DOMINANT 12
OMIM602574.0002 Diseasep.TYR1870CYSDEAFNESS, AUTOSOMAL DOMINANT 12



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