AKUdatabase


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Mutations Aspergillus nidulans


This table list several mutations in the hmgA gene in A. nidulans (the homolog of the human HGO gene) causing loss of catalytic activity, that were identified during the characterization of suDfah mutations. (From: Rodríguez et al., 2000)


Allele

Nucleotide change1

Mutation type
Predicted mutant fungal HGO protein2 Equivalece of mutated residue(s) to human HGO residue(s)
hmgA2 C1206G Nonsense 1® 302* 1® 297*
hmgA3 879insA Frameshift 1® 194fs 1® 190fs
hmgA5 DG1657 Frameshift 1® 437fs 1® 430fs
hmgA6 C1188G Missense His297Gln His292
hmgA8 G875C Missense Arg193Pro Ser189
hmgA9 G198T Missense Met1Ile  
hmgA10 C1315T Missense His340Tyr His335
hmgA11 DA523fs Frameshift 1® 94fs 1® 86fs
hmgA12 D(A1414®C1416) Deletion D Ile373 D Thr367
hmgA13 A310T Splicing ?  
hmgA14 C238T Nonsense 1® 14* 1® 5*
hmgA15 C504G Nonsense 1® 86* 1® 78*
hmgA16 C1318G Missense Arg341Gly Arg336
hmgA17 G763C Missense Gly174Arg Gly170
hmgA18 G1647A Nonsense 1® 433* 1® 426*
hmgA19 393ins26nts Frameshift 1® 50fs 1® 44fs
hmgA20 G816C Splicing ?  
hmgA21 D(G1473®G1569) Deletion D (Lys393®Ser408) D (Ala387® Thr395)
hmgA22 T770G Missense Leu176Trp Met172
hmgA23 609ins7nts Frameshift 1® 122fs 1® 118fs
hmgA24 T743C Missense Leu167Pro Leu163
hmgA25 G264T Splicing ?  

1) Nucleotide 1 is the first base of the published A. nidulans cDNA sequence: U30797.
2) Asterisk denotes an stop codon; fs indicates mutant frameshifted amino acid sequence after the indicated wild type residue