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Results for the Protein: P46531
206729936

NOTC1_HUMAN RecName: Full=Neurogenic locus notch homolog protein 1; Short=Notch 1; Short=hN1; AltName: Full=Translocation-associated notch protein TAN-1; Contains: RecName: Full=Notch 1 extracellular truncation; Contains: RecName: Full=Notch 1 intracellular domain; Short=NICD; Flags: Precursor

Known Diseases associated with this Protein:
  AORTIC VALVE DISEASE 1
1
3
1
0
3
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

EGF_CA - smart00179
EGF_CA - cd00054
EGF - cd00053
EGF - smart00181
EGF - pfam00008
EGF_2 - pfam07974
EGF_CA - pfam07645
NL - smart00004
Notch - pfam00066
NOD - pfam06816
NODP - pfam07684
Arp - COG0666
ANK - cd00204
Ank - pfam00023
ANK - smart00248
DUF3454 - pfam11936


Swiss-Prot Protein: P46531
Identical to: NP_060087
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EGF_CAcd000540.00045999
EGFcd000531.9e-056299
EGF_CAcd000541.1e-06102139
EGFcd000535.9e-10105139
EGF_CAcd000544.2e-10140176
EGFcd000531.2e-09143176
EGF_CAcd000542.6e-14178216
EGFcd000531e-09181216
EGF_CAcd000542.5e-05218255
EGFcd000534.2e-10221255
EGF_CAcd000544e-09257293
EGFcd000531e-07260293
EGF_CAcd000544.2e-15295333
EGFcd000532.7e-11298333
EGF_CAcd000542.8e-11335371
EGFcd000532.1e-08338371
EGFcd000530.00035375410
EGF_CAcd000542.4e-17412450
EGFcd000533.5e-13415450
EGF_CAcd000544.5e-16452488
EGFcd000535.9e-13455488
EGF_CAcd000544.1e-13490526
EGFcd000537.6e-12493526
EGF_CAcd000543.1e-16528564
EGFcd000533.5e-12531564
EGF_CAcd000541.2e-13566601
EGFcd000534.1e-10569601
EGF_CAcd000545.5e-12603639
EGFcd000534.9e-09606639
EGF_CAcd000541.6e-10641676
EGFcd000531.8e-09644676
EGF_CAcd000541.3e-13678714
EGFcd000531.5e-11681714
EGF_CAcd000549e-12716751
EGFcd000531.2e-09719751
EGF_CAcd000544.2e-11753789
EGFcd000531e-11756789
EGF_CAcd000541.8e-14791827
EGFcd000531.8e-11794827
EGF_CAcd000542.5e-06829867
EGFcd000531.9e-09832867
EGF_CAcd000541.5e-16869905
EGFcd000531.9e-11872905
EGF_CAcd000543.4e-12907943
EGFcd000531.5e-09910943
EGF_CAcd000541.9e-14945981
EGFcd000531e-10948981
EGF_CAcd000543.9e-119831019
EGFcd000532.2e-119861019
EGF_CAcd000542.1e-1310211057
EGFcd000537.5e-1110241057
EGF_CAcd000542.4e-0710591095
EGFcd000538.6e-1010621095
EGFcd000534.9e-0911001143
EGF_CAcd000541.5e-1311451181
EGFcd000531.4e-1111481181
EGF_CAcd000543.5e-1611831219
EGFcd000531.6e-1211861219
EGF_CAcd000541.4e-1012211265
EGFcd000539.5e-1112241265
EGF_CAcd000549.7e-1112671305
EGFcd000531.8e-0612701305
EGF_CAcd000541.8e-0513071346
EGFcd000531.1e-0713101346
EGFcd000532.5e-0513511384
EGFcd000530.0002913901426
ArpCOG06662.6e-1918092101
ANKcd002041.9e-3018752015
ANKcd002047.8e-1620222150
EGFpfam000087.9e-056397
EGFpfam000081.5e-07106137
EGFpfam000083.2e-07144174
EGFpfam000083.5e-08222253
EGFpfam000081.1e-06261291
EGFpfam000083.8e-06299331
EGFpfam000081.5e-05339369
EGFpfam000081.4e-08416448
EGFpfam000081.7e-07456486
EGFpfam000085.1e-09494524
EGFpfam000084.2e-09532562
EGFpfam000085.6e-06570599
EGFpfam000085.6e-07607637
EGFpfam000086e-06645674
EGFpfam000081.4e-07682712
EGFpfam000081.1e-06720749
EGFpfam000083.7e-06757787
EGFpfam000081.7e-08795825
EGFpfam000083.9e-07833865
EGFpfam000082.9e-07873903
EGFpfam000085.2e-06911941
EGFpfam000081.1e-05949979
EGFpfam000082.6e-089871017
EGFpfam000082.9e-0810251055
EGFpfam000081.5e-0810631093
EGFpfam000084.9e-0811491179
EGFpfam000082.6e-0811871217
EGFpfam000080.0001812251263
EGFpfam000087.5e-0612711303
EGFpfam000081.7e-0513111344
EGFpfam000080.0001113521382
Notchpfam000665.6e-1214441480
Notchpfam000668.3e-1714851522
Notchpfam000661.7e-1515231562
Ankpfam000232.1e-1318801925
Ankpfam000231.3e-0719271959
Ankpfam000238.9e-0619942026
Ankpfam000231.7e-0520272059
Ankpfam000230.0001120602092
EGF_CAsmart001790.000715999
EGFsmart001813.9e-056299
EGFsmart001812.7e-09105139
EGF_2pfam079741.1e-05106138
EGF_CAsmart001794.8e-09140176
EGFsmart001811.6e-08143176
EGF_2pfam079740.00034144175
EGF_CApfam076451.4e-06178215
EGF_CAsmart001792.5e-15178216
EGFsmart001812.9e-09181216
EGFsmart001817.4e-09221255
EGF_CAsmart001790.00075222255
EGF_CAsmart001794.6e-09257293
EGFsmart001811.3e-05260293
EGF_CApfam076456.3e-10295332
EGF_CAsmart001791.6e-15295333
EGFsmart001811.8e-10298333
EGF_CAsmart001798.3e-12335371
EGFsmart001813.7e-07338371
EGF_CApfam076456.3e-13412449
EGF_CAsmart001792.4e-18412450
EGFsmart001819.3e-13415450
EGF_CApfam076451e-05452487
EGF_CAsmart001796.5e-16452488
EGFsmart001812.1e-11455488
EGF_CAsmart001792.4e-13490526
EGFsmart001812.4e-10493526
EGF_CAsmart001793.3e-16528564
EGFsmart001812.7e-10531564
EGF_CAsmart001791.4e-13566601
EGFsmart001814.7e-08569601
EGF_CAsmart001791.4e-12603639
EGFsmart001819.2e-08606639
EGF_CAsmart001791.5e-10641676
EGFsmart001811.1e-07644676
EGF_CAsmart001795.5e-14678714
EGFsmart001813.8e-10681714
EGF_CAsmart001792.4e-11716751
EGFsmart001812.4e-08719751
EGF_CAsmart001792e-10753789
EGFsmart001814.3e-10756789
EGF_CAsmart001796.3e-14791827
EGFsmart001812.8e-09794827
EGFsmart001812.1e-08832867
EGF_CAsmart001790.00047833867
EGF_CApfam076451.2e-08869904
EGF_CAsmart001792.2e-17869905
EGFsmart001811.1e-10872905
EGF_CAsmart001791.5e-11907943
EGFsmart001814.8e-08910943
EGF_CAsmart001791.2e-14945981
EGFsmart001814.5e-08948981
EGF_CAsmart001792.8e-099831019
EGFsmart001819e-109861019
EGF_CAsmart001796.4e-1410211057
EGFsmart001811.3e-0910241057
EGFsmart001812e-0810621095
EGF_CAsmart001790.0002210631095
EGFsmart001811.2e-0911001143
EGF_CAsmart001793.4e-1111461181
EGFsmart001815.3e-1011481181
EGF_CAsmart001792.4e-1611831219
EGFsmart001814.6e-1111861219
EGF_CAsmart001792.3e-1012211265
EGFsmart001819.2e-0912241265
EGF_CAsmart001791e-1012671305
EGFsmart001812.8e-0612701305
EGF_CAsmart001790.000813081346
EGFsmart001813.4e-0613101346
NLsmart000044.3e-1514421479
NLsmart000043.9e-1714831521
NLsmart000045.7e-1715221561
NODpfam068162.3e-3515661621
NODPpfam076841.5e-3216701731
ANKsmart002480.0003819271956
ANKsmart002487.8e-0520272056
ANKsmart002480.0002620602089
DUF3454pfam119362.8e-3024782541

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_048990Polymorphismp.ARG879TRPN/A
Swiss-ProtVAR_034898Polymorphismp.GLN300ARGN/A
Swiss-ProtVAR_046618Polymorphismp.VAL1671ILEN/A
OMIM190198.0001 Diseasep.ARG1108TERAORTIC VALVE DISEASE 1



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