ABCC5 p.Gly1393Ala
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PMID: 20103563
[PubMed]
Klaassen CD et al: "Xenobiotic, bile acid, and cholesterol transporters: function and regulation."
No.
Sentence
Comment
6468
Nucleotide Change Amino Acid Change In Vitro Function Protein Expression/ Localization SLC22A1 OCT1 C41T S14F 1 N.D. C181T R61C 2 Reduced T262C C88R 2 N.D. C480G F160L ↔ Normal C566T S189L ↔ N.D. G659T G220V 2 N.D. C848T P283L 2 Normal C859G R287G 2 Normal C1022T P341L 2↔ Normal G1201A G401S 2 N.D. A1222G M408V ↔ N.D. 1258del Met420STOP 2↔ N.D. G1393A G465R 2 Reduced SLC22A2 OCT2 C160T P54S ↔ N.D. T481C F161L ↔ N.D. A493G M165V 2↔ N.D. G495A M165I 2↔ N.D. C596T T199I 2 Normal C602T T201M 2 Normal G808T A270S 2 Normal C890G A297G ↔ N.D. C1198T R400C 2 N.D. A1294C K432Q 2↔ N.D. 2, reduced function; 1; increased function; ↔, no change in function; N.D. not determined.
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ABCC5 p.Gly1393Ala 20103563:6468:382
status: NEW6467 Nucleotide Change Amino Acid Change In Vitro Function Protein Expression/ Localization SLC22A1 OCT1 C41T S14F 1 N.D. C181T R61C 2 Reduced T262C C88R 2 N.D. C480G F160L Normal C566T S189L N.D. G659T G220V 2 N.D. C848T P283L 2 Normal C859G R287G 2 Normal C1022T P341L 2 Normal G1201A G401S 2 N.D. A1222G M408V N.D. 1258del Met420STOP 2 N.D. G1393A G465R 2 Reduced SLC22A2 OCT2 C160T P54S N.D. T481C F161L N.D. A493G M165V 2 N.D. G495A M165I 2 N.D. C596T T199I 2 Normal C602T T201M 2 Normal G808T A270S 2 Normal C890G A297G N.D. C1198T R400C 2 N.D. A1294C K432Q 2 N.D. 2, reduced function; 1; increased function; , no change in function; N.D. not determined.
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ABCC5 p.Gly1393Ala 20103563:6467:377
status: NEW