HEALTHY DNA SEQUENCE

1 61 121 181 241 301 361 421 481 541 601 661 721 781 841 ATGAGGGGCA GTGTCCCTGA GCCACCCTCG GAGGTCAGAG GCACCAGACA CGCTACCTGT GATGGCTGCG TTCTCCCGGT GACGCAGTAG GGCTTGGAGG TCCCAGTGGT AGCGCTGACA ATGCTGCTCC TATGGCCTGA CTGAAGTGA TGAAGCTGCT AGATCGCAGC TCAGCTACAT ACAGCCACCT CCTATCACTA TCGTGTACAG AGCCCTGCGG TCACAGAGGT CCGAGATCGA ACGTCATGTT CATCCATCCG CCACAGCTAC GAGGCGCCGT GTGACCAACT GGGGGCGCTG CTTCAACATC TGTGCAGATC GACTGCCGTG CGTGGTCAGT GCCTGACCAG GAACGACACC CAGGGAGTTT CGCTCTCTAT GATGGGCGAC CCTGTGGACA ACCCACGCAC TGTTCCCGAC GGCCCAAGCC CTGGCACTGG CAGACATTTG CTGAGCCGCT GGGAAGCTGC GAGCCACTGG GTGTCTGCGG TTCAACCGAG GCCATTGTTC GACGTCTACC TTCAATGCGG AGCCCCACCT TGTGCCTATG TCGGCTCTTC ATCAGTGACC CGGCCCTACT GGGAGACCAA ATGACATCGC TGGACAACCT GACGGAACAG TGGACAGCTA AGCCAGCCAT CCCTGCATGC TGGATGTCCA GCTGCAGCTA TCCAGTGGCT ACAGGATCGT CCTTTAACTT ACTATCCAGT GCAGGGGGCC GATGTCCAAT CCTGGTCCAG CAATCAGGAT CTATAAGGAG CTACTACGAT TGTCAGGTTC GGCCCCGGGG AGAGAAATGG TGTGAGACCC GATCCCCGAC GGTTGCAGGG CCAGGCTGCC GGAGGTGATG

ALLELIC VARIANTS
.0001 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO DNASE1, LYS5TER A LYSINE-TO-TERMINATION SUBSITUTION AT CODON 5 AAG BECOMES TAG.

Adenine #13 changed to Thymine

OMIM states Yasutomo et al. (2001) identified an A-to-G transition in exon 2 at position 172 of the DNASE1 coding sequence, which resulted in a lys-to-ter substitution at codon 5 This is not correct, the lysine to termination substitution at codon 5 results in an A-to-T transition at position #13.

.0002 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO DNASE1, GLN244ARG A GLUTAMINE TO ARGININE SUBSTITUTION AT POSITION 244 CGA BECOMES CAA.

Guanine #748 changed to Adenine

http://omim.org/allelicVariant/125505 http://www.ncbi.nlm.nih.gov/CCDS/CcdsBrowse.cgi?REQUEST=CCDS&DATA=CCDS1 0507.1