LOCUS HSU43383 1310 bp mRNA linear HUM 31-JAN-1999
DEFINITION Human unidentified mRNA mapping to CMT1A-REP elements, partial cds.
ACCESSION U43383
VERSION U43383.1
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 1310)
AUTHORS Kennerson,M.L.
TITLE Molecular genetics of the CMT1A duplication
JOURNAL Thesis (1995) Medicine, University of Sydney
REFERENCE 2 (bases 1 to 1310)
AUTHORS Kennerson,M.L.
TITLE Direct Submission
JOURNAL Submitted (14-DEC-1995) Marina L. Kennerson, Medicine, University
of Sydney, Clinical, Sciences Bldg, Concord Hospital, Concord, NSW,
2139 Australia
FEATURES Location/Qualifiers
source 1..1310
/db_xref="H-InvDB:HIT000219854"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17p11.2-p12"
/clone="c25H2"
/tissue_type="brain"
/clone_lib="Clontech, catalog number HL3003b"
/dev_stage="fetus"
/note="Charcot-Marie-Tooth type 1A; this clone maps to the
CMT1A-REP elements which flank the CMT1A duplication"
CDS <1..593
/note="putative ORF"
/codon_start=3
/protein_id="AAD10830.1"
/translation="GKNRLVSGGRDCQVKVWDVDTGKCLKTFRHKDPILATRINDTYI
VSSCERGLVKVWHIAMAQLVKTLSGHEGAVKCLFFDQWHLLSGSTDGLVMAWSMVGKY
ERCLMAFKHPKEVLDVSLLFLRIISACANGKIRIYNFLHGNCMKVIKTNGRGDPVLSF
RATEFQSATSAHLLKELTWDGMESNQVLQLREEMPP"
BASE COUNT 363 a 310 c 336 g 301 t
ORIGIN
1 cgggtaagaa caggctcgta tctggaggaa gagattgcca ggtaaaagta tgggatgtag
61 acacagggaa gtgcctgaag acgtttagac acaaagaccc catcttggcc accaggatca
121 atgataccta cattgtgagc agctgtgagc gagggctggt gaaagtgtgg cacattgcca
181 tggcccagtt ggtaaagact ctcagtggcc acgagggagc cgtgaaatgc ctgttctttg
241 accagtggca tctcctctca ggaagcactg atggcctggt catggcctgg agcatggtgg
301 ggaagtacga gcgctgcctg atggccttca agcatcccaa agaggtgctc gacgtgtccc
361 ttctcttcct ccggatcatc agcgcctgtg caaatggcaa gatccgaatt tacaatttcc
421 tccatgggaa ctgtatgaag gtgataaaaa ccaatggcag aggcgatcct gtgctgtcct
481 tcagggcaac agaatttcag tctgccacat cagcacattt gctaaaagaa ttaacgtggg
541 atggaatgga atcgaaccaa gtgctacagc tcagggagga aatgcctcct tgaccgagtg
601 tgctcatgtg agactccaca tcgcgggaca cttaccagca tcgaggctgc ccgtggccgc
661 tgtccagccc atgacaggcg ggatggcccc aaccacagct ccgacccatg tgttggcaat
721 gctgatcctt ttcagtggtg tgtagcagca ggtatacagg aaaatgttga aaagcccagg
781 gctcctgtga gtggattcac ccccaaggtc agaatggcaa ctcctggaac agcacaacaa
841 gtggcaaagg acacagctag caacgggctg gaaaaaggca gccaactcaa ctcaatcaca
901 ctacctaaaa tcggcactga caaagtacaa ataatccacc tatccagtag aggcagcact
961 gatctggctg atccctggat atggggaatc ctctttatga aacaaactta caataagaaa
1021 gaatatgttt gtgggagctc tggctgctct tcttgatttt gctagctaag agtaaagtgg
1081 ttaagagagt caggattaga gtgttctgga ttcatatagg ttctgtccct ccctggctat
1141 agggcagcta ggtttcactt actcctctct acaagagaaa tgatcatctt ttcctcctag
1201 ggttgaagac tgactgagac aatgcccctg cacagtgttc cattttatat ttagtcatga
1261 acaaacaact tcagacacaa tattggaaga tttgggcaga aaatactacc
//