ABCD4 p.Cys593Arg
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PMID: 20615085
[PubMed]
Drain S et al: "Multidrug resistance in the chronic lymphoproliferative disorders."
No.
Sentence
Comment
188
Exon rs designation Allele change Synonymous/ non-synonymous Residue effect 3 rs28381804 C-T Non-synonymous Leu-17-Phe 3 rs41304191 T-C Synonymous Leu-19-Leu 3 rs9332385 A-G Synonymous Leu-19-Leu 3 rs9282564 G-A Non-synonymous Leu-21-Asn 5 rs1202183 G-A Non-synonymous Ser-44-Asn 5 rs41315618 C-A Non-synonymous Leu-60-Ile 5 rs9282565 A-C Non-synonymous Glu-80-Ala 5 rs35810889 C-T Non-synonymous Thr-89-Met 7 rs61607171 C-T Non-synonymous Thr-144-Ile 7 rs61122623 A-G Non-synonymous Ile-168-Val 8 rs1128500 T-C Synonymous Ser-180-Ser 8 rs60419673 G-A Non-synonymous Ser-183-Asn 8 rs1128501 T-G Non-synonymous Val-185-Gly 8 rs1128502 T-A Synonymous Gly-185-Gly 9 rs2235022 G-A Synonymous Glu-243-Glu 9 rs28381867 A-G Synonymous Ala-246-Ala 9 rs36008564 G-A Non-synonymous Val-261-Ile 12 rs2229109 A-G Non-synonymous Asn-400-Ser 13 rs1128503 C-T{ Synonymous Gly-412-Gly 13 rs35068177 G-A Synonymous Thr-436-Thr 13 rs41311775 A-G Synonymous Arg-442-Arg 15 rs35633772 T-C Synonymous Ile-539-Ile 15 rs60247941 G-T Synonymous Ala-544-Ala 15 rs2235012 C-G Synonymous Leu-554-Leu 15 rs56871767 A-G Synonymous Thr-558-Thr 15 rs59697741 T-C Synonymous Ser-565-Ser 15 rs28381902 A-G Non-synonymous Lys-566-Glu 16 rs28381914 T-C Non-synonymous Cys-593-Arg 16 rs56107566 A-G Non-synonymous His-593-Arg 16 rs28381915 T-C Synonymous Ile-598-Ile 16 rs2235036 A-G Non-synonymous Thr-599-Ala 16 rs57001392 T-G Non-synonymous Tyr-613-Asp 17 rs35657960 G-T Non-synonymous Arg-662-Leu 17 rs35023033 T-C Non-synonymous Cys-669-Arg 17 rs59340265 T-C Synonymous Asp-679-Asp 18 rs41316450 A-T Non-synonymous Lys-736-Ile 21 rs41305517 A-G Non-synonymous Asn-800-Asp 21 rs2235039 A-G Non-synonymous Met-801-Val 22 rs2032581 G-A Non-synonymous Val-829-Ile 22 rs28381966 G-A Synonymous Val-835-Val 22 rs28381967 G-A Non-synonymous Val-836-Ile 22 rs36105130 G-A Non-synonymous Met-849-Ile 22 rs9282563 T-C Synonymous Leu-884-Leu 22 rs2032582 G-T/A{ Non-synonymous Thr-893-Ala/Ser 25 rs56849127 A-G Non-synonymous Asn-992-Ser 25 rs72552784 A-G Non-synonymous Thr-999-Ala 25 rs2235044 A-G Synonymous Pro-1028-Pro 26 rs28401798 G-C Non-synonymous Ala-1051-Pro 26 rs2707944 C-G Non-synonymous Ala-1063-Gly 26 rs2707943 G-C Synonymous Gly-1063-Gly 26 rs57521326 A-G Non-synonymous Asn-1088-Asp 27 rs41309225 G-A Non-synonymous Glu-1099-Lys 27 rs55852620 C-A Non-synonymous Pro-1107-Gln 27 rs35730308 C-T Non-synonymous Arg-1108-Trp 27 rs34748655 T-C Synonymous Ala-1132-Ala 27 rs41309228 T-G Non-synonymous Ile-1137-Ser 27 rs2229107 A-T Non-synonymous Thr-1141-Ser 27 rs1045642 C-T{ Synonymous Ile-1145-Ile 28 rs59241388 G-A Non-synonymous Glu-1168-Lys 29 rs41309231 T-A Non-synonymous Asp-1223-Glu (continued) P-gp [78].
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ABCD4 p.Cys593Arg 20615085:188:1233
status: NEW