ABCA1 p.Gly1256Cys
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PMID: 20103563
[PubMed]
Klaassen CD et al: "Xenobiotic, bile acid, and cholesterol transporters: function and regulation."
No.
Sentence
Comment
6743
Nucleotide Change Amino Acid Change In Vitro Function Protein Expression/ Localization SLC15A1 PEPT1 G61A V21I ↔ N.D. T83A F28Y 2 Normal G350A S117N ↔ Normal G364A V122M ↔ Normal G1256C G419A ↔ Normal G1348A V450I ↔ Normal C1352A T451N ↔ Normal C1609T P537S ↔ N.D. C1757T P586L 2 Reduced SLC15A2 PEPT2 G207A R57H 2 Normal C1048T L350F N.D. N.D. C1225T P409S ↔ Normal G1526A R509K N.D. N.D. 2, reduced function; ↔, no change in function; N.D. not determined.
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ABCA1 p.Gly1256Cys 20103563:6743:200
status: NEW6741 Nucleotide Change Amino Acid Change In Vitro Function Protein Expression/ Localization SLC15A1 PEPT1 G61A V21I N.D. T83A F28Y 2 Normal G350A S117N Normal G364A V122M Normal G1256C G419A Normal G1348A V450I Normal C1352A T451N Normal C1609T P537S N.D. C1757T P586L 2 Reduced SLC15A2 PEPT2 G207A R57H 2 Normal C1048T L350F N.D. N.D. C1225T P409S Normal G1526A R509K N.D. N.D. 2, reduced function; , no change in function; N.D. not determined.
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ABCA1 p.Gly1256Cys 20103563:6741:197
status: NEW