85 Four of the mutations (M57, M63: G392E; M285: G392K; M107: G1087D) caused alterations in the ®rst glycine of the A-motif (G-X-X-G-X-G-K-T/S); in six other mutants the last glycine of the A-motif was replaced by a di€erent amino acid (M17, M35, M77, M194: G397D; M296: G397N; M44: G1092E).

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ABCB4 p.Gly392Lys 11254136:85:46

status: NEW

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96 Mutationa Motif b Mating eciencyc Nucleotide exchange Amino acid exchange 36 G580A, G581A, G588A, G591A G38N TM1 0.06 271 G580A, G581A G38N TM1 0.01 52 G581A G38D TM1 <10±6 263 G581A G38D TM1 0.06 319 G581A G38D TM1 <10±6 115 C675T, C676T, C679T Q70STOP, L71F TM1 0.15 86 G1427T G320V TM1 6.00 234 G1427A G320D TM1 5.50 285 G1642A, G1643A G392K WA <10±6 57 G1643A G392E WA <10±6 63 G1643A G392E WA <10±6 17 G1658A G397D WA <10±6 35 G1658A G397D WA <10±6 77 G1658A G397D WA <10±6 194 G1658A G397D WA 0.01 296 G1657A, G1658A G397N WA 1.7 24 G1783A E439 K Loop2 0.01 68 G1988A S507 N LSGGQ 0.50 197 G1988A S507 N LSGGQ 0.85 206 G1988A, G1990A, G1993A S507N, G508S, G509R LSGGQ <10±6 258 G2017C A517P WB 0.01 326 C2042T P525L WB 7.0 (25°C), 0.6 (30°C), <10±6 (37°C) 8 G2059A, G2065A E531K, V533I WB 0.75 110 C2363T, C2365T S632F, Q633STOP WB 1.8 349 G2966A, G3290A R833K, R941H WB 1.9 107 G3728A G1087D WA <10±6 44 G3743A G1092E WA <10±6 a Nucleotide positions are indicated according to GenBank Accession No. M26376 b TM1, transmembrane domain 1; WA/WB, Walker A and B motifs (Walker et al. 1982); Loop2 was de®ned by Hyde et al. (1990); LSGGQ, signature motif c Average mating activity based on at least two independent quantitative mating experiments.

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ABCB4 p.Gly392Lys 11254136:96:355

status: NEW

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