ABCC10 p.Gly1385Ala
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PMID: 20103563
[PubMed]
Klaassen CD et al: "Xenobiotic, bile acid, and cholesterol transporters: function and regulation."
No.
Sentence
Comment
6788
Nucleotide Change Amino Acid Change In Vitro Function Protein Expression/ Localization SLC22A4 OCTN1 G475A V159M ↔ N.D. A494G D165G 2 Normal G615A M205I 2 Normal C844T Arg282STOP 2 N.D. C917T T306I ↔ Normal G1385A G462E 2 Normal C1507T L503F 1 Normal SLC22A5 OCTN2 C51G F17L 2 Intracellular C430T L144F ↔ Normal T1345G Y449D 2 N.D. G1441T V481F 2 N.D. G1441A V481I ↔ N.D. T1522C F508L ↔ N.D. A1588G M530V ↔ N.D. C1645T P549S ↔ Normal 2, reduced function; 1, increased function; ↔, no change in function; N.D. not determined.
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ABCC10 p.Gly1385Ala 20103563:6788:221
status: NEW6785 Nucleotide Change Amino Acid Change In Vitro Function Protein Expression/ Localization SLC22A4 OCTN1 G475A V159M N.D. A494G D165G 2 Normal G615A M205I 2 Normal C844T Arg282STOP 2 N.D. C917T T306I Normal G1385A G462E 2 Normal C1507T L503F 1 Normal SLC22A5 OCTN2 C51G F17L 2 Intracellular C430T L144F Normal T1345G Y449D 2 N.D. G1441T V481F 2 N.D. G1441A V481I N.D. T1522C F508L N.D. A1588G M530V N.D. C1645T P549S Normal 2, reduced function; 1, increased function; , no change in function; N.D. not determined.
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ABCC10 p.Gly1385Ala 20103563:6785:219
status: NEW