Table 4.
Mutations identified in recessive brh1 alleles and their deduced effect at protein level
| Allele | Position of mutationa | Type of mutation | Effect of mutation on protein |
|---|---|---|---|
| BW047 (ari-i.38) | 2345 | a to t | Mutation shifts splice site between intron 8 and exon 9 leading to frame shift. 203 native amino-acid residues followed by FSAAPLERAKEAERYTGCMM. |
| BW074 (brh1.a) | 3745-3746 | 2 bp deletion | Frame shift eliminates wild type stop codon and extends exon 13. 372 native residues followed by 152 additional aa residues. |
| BW075 (brh1.aa) | 2205 | 1 bp deletion | Frame shift in exon 8. 185 native residues followed by MCSMQEYGQMGL. |
| BW076 (brh1.ae) | Deletion (minimal region: −723 to 2819 | Large deletion, no transcript detectable | Probably no protein produced |
| brh1.c | 3745-3746 | 2 bp deletion | Frame shift eliminates wild type stop codon and extends exon 13. 372 native residues followed by 152 additional residues. |
| BW077 (brh1.e) | 813 | g to a | Mutation eliminates splice site between intron 4 and exon 5 leading to frameshift. 88 native residues followed by VCYYWKGCVSYLFPHLLHSGDYSGNLHWIFLWECVYTSYY. |
| brh1.f | 1512-1515 | 4 bp deletion | Frame shift and premature stop in exon 6. 129 native residues followed by SLIKNSYRM. |
| BW078 (brh1.t) | 2346 | g to a | Mutation shifts splice site between intron 8 and exon 9. 203 native residues followed by FSATPLERAKEVERYTGCMM. |
| BW079 (brh1.x) | 3718 | a to t | Premature stop in exon 13. Truncated protein of 363 residues. |
| BW080 (brh1.z) | 2205 | 1 bp deletion | Frame shift in exon 8. 185 native residues followed by MCSMQEYGQMGL. |
| ari-m.12 | 3178 | g to a | Premature stop in exon 10. Truncated protein of 270 native residues. |
| BW051 (ari-m.28) | 3178 | g to a | Premature stop in exon 10. Truncated protein of 270 native residues. |
| ari-m.141 | 164 | g to a | Mutation eliminates splice site between intron 1 and exon 2. 21 native residues followed by VSSFPYHLLDSFNSSCPVLSCPVLS. |
| ari-m.177 | 2345 | a to t | Mutation shifts splice site between intron 8 and exon 9 leading to frame shift. 203 native residues followed by FSAAPLERAKEAERYTGCMM. |
| ari-m.251 | Large deletion | No protein produced. | |
| ari-m.269 | 3449 | g to a | Premature stop in exon 12. Truncated protein of 306 residues. |
The deduced polypeptide of Brh1 (AF267485) is 383 amino-acid residues
aFirst position is the “A” of the ATG start codon in the Bowman genomic sequence