ABCMdb

ABCC1 p.Asp1365Asn

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Publications

PMID: 26395522 [PubMed] Slomka M et al: "Genetic variation of the ABC transporter gene ABCC1 (Multidrug resistance protein 1-MRP1) in the Polish population."

No. Sentence Comment

138 Similarly, three variants changing amino acids in the loop containing NBD2 were detected: c.3886C > T (p.Arg1296Trp) and c.3901C > T (p.Arg1301Cys) are located 30 and 25 amino acids upstream of the Walker A motif, respectively, while c.4093G > A (p.Asp1365Asn) is located 30 amino acids downstream of the motif. Login to comment
140 Analysis of all the non-synonymous variants detected in this study by the PolyPhen-2 tool (data in Additional file 3) showed for HumDiv-trained model that five of them: c.814C > T (p.Pro272Ser), c.1898G > A (p.Arg633 Gln), c.2168G > A (p.Arg723Gln), c.2876A > G (p.Lys 959Arg), the novel one c.4093G > A (p.Asp1365Asn), probably have benign influence on the functioning of the protein. Login to comment
151 Small areas of low |D`| values, and hence weak or lacking of linkage, were defined between polymorphisms from group: c.225 + 26G > A, c.352-66 T > C, c.809 + 31G > T, c.809 + 54C > A, c.809 + 64C > G, c.816G > A, c.825 T > C, c.1062 T > C, c.1218 + 8A > G, c.1677 + 56C > T, and those from group: c.1678-37G > A, c.1684 T > C, Table 2 Summary of ABCC1 variants detected during scanning by HRM (Continued) 28 rs2230671 c.4002G > A p.Ser1334= 102 68 18 0.202 (A) 0.277 28 rs188980645 c.4093G > A p.Asp1365Asn 187 1 0 1 (A) 0.003 29 rs212087 c.4126-45G > A Intron 62 85 42 0.239 (A) 0.447 30 rs212088 c.4487 + 18G > A Intron 136 47 5 0.775 (A) 0.148 31 rs587783374* c.4551G > A p.Gln1517= 186 1 0 1 (A) 0.003 31 rs373453875 c. Login to comment