ABCC5 p.Thr779Gly
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PMID: 20103563
[PubMed]
Klaassen CD et al: "Xenobiotic, bile acid, and cholesterol transporters: function and regulation."
No.
Sentence
Comment
6663
Nucleotide Change Amino Acid Change In Vitro Function Protein Expression/ Localization SLC22A6 OAT1 G149A R50H ↔ N.D. C311T P104L ↔ N.D. T677C I226T ↔ N.D. C767T A256V ↔ N.D. C877T R293W ↔ N.D. G1361A R454Q 2 N.D. SLC22A8 OAT3 C387A F129L ↔ N.D. C445A R149S 2 N.D. C715T Gln239STOP 2 N.D. T779G I260R 2 N.D. C829T R277W 2↔ N.D. T842C V281A ↔ N.D. A913T I305F 2 Normal C929T A310V ↔ N.D. G1195T A399S ↔ N.D. G1342A V448I ↔ N.D. 2, reduced function; ↔, no change in function; N.D. not determined.
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ABCC5 p.Thr779Gly 20103563:6663:331
status: NEW6660 Nucleotide Change Amino Acid Change In Vitro Function Protein Expression/ Localization SLC22A6 OAT1 G149A R50H N.D. C311T P104L N.D. T677C I226T N.D. C767T A256V N.D. C877T R293W N.D. G1361A R454Q 2 N.D. SLC22A8 OAT3 C387A F129L N.D. C445A R149S 2 N.D. C715T Gln239STOP 2 N.D. T779G I260R 2 N.D. C829T R277W 2 N.D. T842C V281A N.D. A913T I305F 2 Normal C929T A310V N.D. G1195T A399S N.D. G1342A V448I N.D. 2, reduced function; , no change in function; N.D. not determined.
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ABCC5 p.Thr779Gly 20103563:6660:325
status: NEW