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Results for the Protein: Q8N157
73921659

AHI1_HUMAN RecName: Full=Jouberin; AltName: Full=Abelson helper integration site 1 protein homolog; Short=AHI-1

Known Diseases associated with this Protein:
  JOUBERT SYNDROME 3
  JOUBERT SYNDROME 3 (JBTS3)
11
9
8
1
11
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

COG2319 - COG2319
WD40 - cd00200
WD40 - smart00320
WD40 - pfam00400
SH3 - smart00326
SH3_2 - pfam07653
SH3 - cd00174
SH3_1 - pfam00018




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SH3cd001749.3e-2210551108
COG2319COG23197.4e-20355911
WD40pfam004008.5e-09644682
WD40pfam004000.00015687726
WD40pfam004000.00039734772
SH3_1pfam000185.1e-1810571103
WD40smart003209.5e-08643682
WD40smart003200.0006687726
WD40smart003207.8e-05733772
SH3smart003261.7e-2210521109
SH3_2pfam076532.4e-1010551108

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_037894Diseasep.ARG723GLNJoubert syndrome 3 (JBTS3)
Swiss-ProtVAR_037893Polymorphismp.ARG548HISN/A
Swiss-ProtVAR_037896Polymorphismp.ARG830TRPN/A
dbSNPrs6940875 Polymorphismp.GLN1018PRON/A
Swiss-ProtVAR_068171Diseasep.GLU1086GLYJoubert syndrome 3 (JBTS3)
Swiss-ProtVAR_037892Polymorphismp.ILE49ASNN/A
Swiss-ProtVAR_037901Polymorphismp.PRO1140SERN/A
Swiss-ProtVAR_037895Polymorphismp.SER761LEUN/A
Swiss-ProtVAR_037900Polymorphismp.SER1123PHEN/A
Swiss-ProtVAR_037897Polymorphismp.THR856SERN/A
Swiss-ProtVAR_037898Polymorphismp.TYR933CYSN/A
Swiss-ProtVAR_023391Diseasep.VAL443ASPJoubert syndrome 3 (JBTS3)
OMIM608894.0006 Diseasep.ARG723GLNJOUBERT SYNDROME 3
OMIM608894.0009 Diseasep.ARG495HISJOUBERT SYNDROME 3
OMIM608894.0010 Diseasep.ARG351LEUJOUBERT SYNDROME 3
OMIM608894.0008 Diseasep.ARG329TERJOUBERT SYNDROME 3
OMIM608894.0001 Diseasep.ARG351TERJOUBERT SYNDROME 3
OMIM608894.0002 Diseasep.ARG435TERJOUBERT SYNDROME 3
OMIM608894.0005 Diseasep.ARG589TERJOUBERT SYNDROME 3
OMIM608894.0003 Diseasep.VAL443ASPJOUBERT SYNDROME 3



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