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Results for the Protein: Q9BZF9
91207950

UACA_HUMAN RecName: Full=Uveal autoantigen with coiled-coil domains and ankyrin repeats
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Arp - COG0666
ANK - cd00204
ANK - smart00248
Ank - pfam00023


Swiss-Prot Protein: Q9BZF9
Identical to: NP_060473
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ANKcd002041.7e-2227154
ANKcd002046.5e-17161311
Ankpfam000236.9e-08133165
Ankpfam000235.1e-08166198
Ankpfam000235.2e-05199231
ANKsmart002480.00012133162
ANKsmart002480.00025166195

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs61746365 Polymorphismp.ASN325SERN/A
dbSNPrs61729919 Polymorphismp.ASP1074TYRN/A
Swiss-ProtVAR_048313Polymorphismp.ILE814THRN/A
dbSNPrs114734080 Polymorphismp.LEU780METN/A



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