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Results for the Protein: Q5VV43
74747200

K0319_HUMAN RecName: Full=Dyslexia-associated protein KIAA0319; Flags: Precursor
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MANEC - smart00765
PKD - cd00146
PKD - smart00089


Swiss-Prot Protein: Q5VV43
Identical to: NP_001161847, NP_055624
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PKDcd001461.8e-13529617
PKDcd001466.8e-11626711
PKDcd001466.6e-15719808
MANECsmart007654.7e-3320102
PKDsmart000892.1e-14435522
PKDsmart000891.6e-23530618
PKDsmart000891.6e-17621712
PKDsmart000892.5e-21720809

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs4504469 Polymorphismp.ALA311THRN/A
Swiss-ProtVAR_034032Polymorphismp.GLY919ALAN/A
dbSNPrs2744559 Polymorphismp.GLY567SERN/A
dbSNPrs73727343 Polymorphismp.SER157ALAN/A
dbSNPrs2744550 Polymorphismp.SER773GLYN/A
dbSNPrs4576240 Polymorphismp.THR142PRON/A
dbSNPrs807534 Polymorphismp.TYR1013CYSN/A
dbSNPrs2817191 Polymorphismp.VAL774ALAN/A



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