Results for the protein: P55157

Results for the Protein: P55157

1709167

4547

MTTP

NCBI, UniProt

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

Tips:

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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 ↕
LPD_N	smart00638	5.7e-95	28	580

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_010642	Disease	p.ARG540HIS	Abetalipoproteinemia (ABL)
dbSNP	rs3792683	Polymorphism	p.ASN166SER	N/A
Swiss-Prot	VAR_014019	Disease	p.ASN780TYR	Abetalipoproteinemia (ABL)
dbSNP	rs17029215	Polymorphism	p.ASP384ALA	N/A
dbSNP	rs17599091	Polymorphism	p.GLN244GLU	N/A
dbSNP	rs61733139	Polymorphism	p.GLN95HIS	N/A
dbSNP	rs2306986	Polymorphism	p.GLU98ASP	N/A
dbSNP	rs12933	Polymorphism	p.GLU354GLN	N/A
Swiss-Prot	VAR_010644	Disease	p.GLY746GLU	Abetalipoproteinemia (ABL)
dbSNP	rs113337987	Polymorphism	p.GLY661SER	N/A
dbSNP	rs2306985	Polymorphism	p.HIS297GLN	N/A
dbSNP	rs3816873	Polymorphism	p.ILE128THR	N/A
Swiss-Prot	VAR_010643	Disease	p.SER590ILE	Abetalipoproteinemia (ABL)
Swiss-Prot	VAR_022658	Polymorphism	p.VAL168ILE	N/A

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