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Results for the Protein: Q5SW96
116241254

ARH_HUMAN RecName: Full=Low density lipoprotein receptor adapter protein 1; AltName: Full=Autosomal recessive hypercholesterolemia protein

Known Diseases associated with this Protein:
  HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
  HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE (ARH)
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1
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Default View:

PTB - smart00462


Swiss-Prot Protein: Q5SW96
Identical to: NP_056442
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PTBsmart004621.4e-4243178

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_023320Diseasep.SER202HISHypercholesterolemia, autosomal recessive (ARH)
dbSNPrs6687605 Polymorphismp.SER202PRON/A
OMIM605747.0003 Diseasep.GLN136TERHYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
OMIM605747.0004 Diseasep.PRO202HISHYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
OMIM605747.0001 Diseasep.TRP22TERHYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE



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