ABCA4 p.Arg1108Trp
| ClinVar: |
c.3323G>A
,
p.Arg1108His
?
, not provided
c.3323G>T , p.Arg1108Leu ? , not provided c.3322C>T , p.Arg1108Cys D , Pathogenic |
| Predicted by SNAP2: | A: D (75%), C: D (85%), D: D (80%), E: D (75%), F: D (95%), G: D (80%), H: D (71%), I: D (71%), K: N (57%), L: D (80%), M: D (75%), N: D (66%), P: D (80%), Q: D (66%), S: D (71%), T: D (66%), V: D (71%), W: D (85%), Y: D (71%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: N, L: D, M: D, N: D, P: D, Q: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Multidrug resistance in the chronic lymphoprolifer... Leuk Lymphoma. 2010 Oct;51(10):1793-804. Drain S, Catherwood MA, Alexander HD
Multidrug resistance in the chronic lymphoproliferative disorders.
Leuk Lymphoma. 2010 Oct;51(10):1793-804., [PMID:20615085]
Abstract [show]
Multidrug resistance (MDR) is a phenomenon in malignancy whereby tumor cells generate mechanisms to resist cytotoxic treatments. Several such mechanisms have been identified. However, to date the most significant research on MDR has involved the adenosine triphosphate binding cassette (ABC) transporter proteins, including P-glycoprotein (P-gp) and multidrug resistance associated protein (MRP). These proteins have natural functions involving substrate transport in normal cells but are detrimental to treatment when expressed in the membrane of tumor cells. It remains unclear whether ABC mediated MDR functions primarily through protein up-regulation or via a relevant signaling mechanism, or is simply due to selective pressure on an already resistant tumor cell subpopulation. Here we present an overview of MDR in the chronic lymphoproliferative disorders (CLPDs), in particular that attributed to the ABC transporter protein family.
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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].
X
ABCA4 p.Arg1108Trp 20615085:188:2385
status: NEW