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Results for the Protein: P55157
1709167

MTP_HUMAN RecName: Full=Microsomal triglyceride transfer protein large subunit; Flags: Precursor

Known Diseases associated with this Protein:
  ABETALIPOPROTEINEMIA (ABL)
4
10
0
9
5
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Default View:

LPD_N - smart00638
Vitellogenin_N - pfam01347


Swiss-Prot Protein: P55157
Identical to: NP_000244
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Vitellogenin_Npfam013473.5e-8628580
LPD_Nsmart006385.7e-9528580

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_010642Diseasep.ARG540HISAbetalipoproteinemia (ABL)
dbSNPrs3792683 Polymorphismp.ASN166SERN/A
Swiss-ProtVAR_014019Diseasep.ASN780TYRAbetalipoproteinemia (ABL)
dbSNPrs17029215 Polymorphismp.ASP384ALAN/A
dbSNPrs17599091 Polymorphismp.GLN244GLUN/A
dbSNPrs61733139 Polymorphismp.GLN95HISN/A
dbSNPrs2306986 Polymorphismp.GLU98ASPN/A
dbSNPrs12933 Polymorphismp.GLU354GLNN/A
Swiss-ProtVAR_010644Diseasep.GLY746GLUAbetalipoproteinemia (ABL)
dbSNPrs113337987 Polymorphismp.GLY661SERN/A
dbSNPrs2306985 Polymorphismp.HIS297GLNN/A
dbSNPrs3816873 Polymorphismp.ILE128THRN/A
Swiss-ProtVAR_010643Diseasep.SER590ILEAbetalipoproteinemia (ABL)
Swiss-ProtVAR_022658Polymorphismp.VAL168ILEN/A



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