LOCUS AF337810 800 bp mRNA linear HUM 02-MAR-2001 DEFINITION Homo sapiens CMT duplicated region transcript 1 (CDRT1) mRNA, complete cds. ACCESSION AF337810 VERSION AF337810.1 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 800) AUTHORS Inoue,K., Dewar,K., Katsanis,N., Reiter,L.T., Lander,E.S., Devon,K.L., Wyman,D.W., Lupski,J.R. and Birren,B. TITLE The 1,421,129 bp CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes JOURNAL Unpublished REFERENCE 2 (bases 1 to 800) AUTHORS Inoue,K., Katsanis,N., Reiter,L.T. and Lupski,J.R. TITLE Direct Submission JOURNAL Submitted (17-JAN-2001) Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm609E, Houston, TX 77030, USA FEATURES Location/Qualifiers source 1..800 /db_xref="H-InvDB:HIT000077857" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="17" /map="17p12; CMT1A/HNPP region" /note="this genomic region is frequently duplicated/deleted in patients with Charcot-Marie-Tooth disease type 1A (CMT1A)/hereditary neuropathy with liability to pressure palsy (HNPP)" gene 1..800 /gene="CDRT1" CDS 13..744 /gene="CDRT1" /codon_start=1 /product="CMT duplicated region transcript 1" /protein_id="AAK15344.1" /translation="MSPDQFLLTVSALQHARNSGEFAYPCRPQTEITDVWGPSISYPR KVLNFKGKSIQRAVDRLRLSNPPIDVKRTSIPLEIQKLQPNLKISLHSPRAQSTIPEP MIIRSRFSGSLKGGDQVTSSIERAVCSTGPLTSMQVIKPNRMLAPQVGTATLSLKKER PRIYTALDPFRVNAEFVLLTVKEEKEHQEAKMKEYQARESTGVVDPGKASKAAWIRKI KGLPIDNFTKQGKTAAPELGQNVFI" BASE COUNT 240 a 199 c 187 g 174 t ORIGIN 1 tggaaaatcc ctatgtcacc tgaccaattc ctcctgactg ttagcgccct gcagcacgcc 61 cgtaattccg gggaatttgc ctatccctgt aggccccaaa cagaaattac tgatgtctgg 121 ggaccttcaa tttcataccc aaggaaggtc ttgaatttca aaggaaaatc aatccaacgt 181 gcagttgatc ggttgagatt gagcaatcct cctatagatg tgaaacgaac cagtattccc 241 cttgaaatcc agaaactgca gcccaacttg aagatctctt tgcacagtcc tagagcccag 301 tccaccatac ccgagcccat gattatccgc tccaggttct ctggcagctt aaagggtgga 361 gaccaagtga ccagttcaat tgaaagggct gtgtgcagta cgggtcccct gaccagtatg 421 caggtcatta aaccaaaccg catgctagct ccacaagtgg gcacagccac cctgtctctt 481 aagaaagaac ggcctcgcat ctatacagcc cttgatcctt ttagagtgaa cgctgagttc 541 gtgctgttga ccgtgaagga ggagaaggag caccaggaag ccaagatgaa ggaatatcag 601 gccagggagt ccactggagt ggttgatcca ggaaaagcca gcaaagctgc atggatcagg 661 aagatcaaag gcctgcctat tgataatttc acgaagcaag ggaaaacagc ggcccctgaa 721 cttggacaaa atgtatttat ctaaaccagc cttgggaaat tacagtgttt tacaataaac 781 agaaagccaa gcggaaaaaa //