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Results for the Protein: Q9Y283
68565551

INVS_HUMAN RecName: Full=Inversin; AltName: Full=Inversion of embryo turning homolog; AltName: Full=Nephrocystin-2

Known Diseases associated with this Protein:
  NEPHRONOPHTHISIS 2
  NEPHRONOPHTHISIS 2 (NPHP2)
6
2
4
0
4
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Default View:

ANK - cd00204
Arp - COG0666
Ank - pfam00023
ANK - smart00248
IQ - pfam00612


Swiss-Prot Protein: Q9Y283
Identical to: NP_055240
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ANKcd002041.3e-248134
ArpCOG06667.6e-1810296
ANKcd002041.1e-35143275
ANKcd002042.2e-35283410
ArpCOG06667e-28319584
ANKcd002045.3e-38417544
Ankpfam000232.6e-074779
Ankpfam000237.5e-0580112
Ankpfam000236e-05148180
Ankpfam000230.00082254286
Ankpfam000231.3e-07356388
Ankpfam000233.6e-05389421
Ankpfam000237.8e-08422454
Ankpfam000237.7e-07455487
Ankpfam000230.00014488520
IQpfam006120.00042917937
ANKsmart002481.8e-064776
ANKsmart002481.5e-05148177
ANKsmart002480.00031220250
ANKsmart002480.00038288317
ANKsmart002481.1e-05356385
ANKsmart002480.00043389418
ANKsmart002483.3e-06422451
ANKsmart002482.1e-05455484
ANKsmart002481.1e-05488517

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_022823Diseasep.LEU493SERNephronophthisis 2 (NPHP2)
Swiss-ProtVAR_022822Diseasep.PRO482ARGNephronophthisis 2 (NPHP2)
Swiss-ProtVAR_044120Polymorphismp.SER888ARGN/A
Swiss-ProtVAR_044119Polymorphismp.SER242LEUN/A
OMIM243305.0001 Diseasep.ARG603TERNEPHRONOPHTHISIS 2
OMIM243305.0004 Diseasep.ARG899TERNEPHRONOPHTHISIS 2
OMIM243305.0003 Diseasep.ARG907TERNEPHRONOPHTHISIS 2
OMIM243305.0002 Diseasep.LEU493SERNEPHRONOPHTHISIS 2



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