LOCUS S61788 601 bp mRNA linear HUM 25-AUG-1993 DEFINITION PMP-22=peripheral myelin protein [human, fibroblasts, mRNA Mutant, 601 nt]. ACCESSION S61788 VERSION S61788.1 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 601) AUTHORS Valentijn,L.J., Baas,F., Wolterman,R.A., Hoogendijk,J.E., van den Bosch,N.H., Zorn,I., Gabreels-Festen,A.W., de Visser,M. and Bolhuis,P.A. TITLE Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A JOURNAL Nat. Genet. 2 (4), 288-291 (1992) PUBMED 1303281 REMARK GenBank staff at the National Library of Medicine created this entry [NCBI gibbsq 132953] from the original journal article. FEATURES Location/Qualifiers source 1..601 /db_xref="H-InvDB:HIT000215964" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" gene 1..601 /gene="PMP-22" /note="peripheral myelin protein" CDS 50..532 /gene="PMP-22" /note="peripheral myelin protein" /codon_start=1 /protein_id="AAB26811.1" /translation="MLLLLLSIIVLHVAVPVLLFVSTIVSQWIVGNGHATDLWQNCST SSSGNVHHCFSSSPNEWLQSVQATMILSIIFSILSLFLFFCQLFTLTKGGRFYITGIF QILAGLCVMSAAAIYTVRHPEWHLNSDYSYGFAYILAWVAFPLALLSGVIYVILRKRE " BASE COUNT 119 a 180 c 154 g 148 t ORIGIN 1 gcgctctcct cgcaggcaga aactccgctg agcagaactt gccgccagaa tgctcctcct 61 gttgctgagt atcatcgtcc tccacgtcgc ggtgccggtg ctgctgttcg tctccacgat 121 cgtcagccaa tggatcgtgg gcaatggaca cgcaactgat ctctggcaga actgtagcac 181 ctcttcctca ggaaatgtcc accactgttt ctcatcatca ccaaacgaat ggctgcagtc 241 tgtccaggcc accatgatcc tgtcgatcat cttcagcatt ctgtctctgt tcctgttctt 301 ctgccaactc ttcaccctca ccaagggggg caggttttac atcactggaa tcttccaaat 361 tcttgctggt ctgtgcgtga tgagtgctgc ggccatctac acggtgaggc acccggagtg 421 gcatctcaac tcggattact cctacggttt cgcctacatc ctggcctggg tggccttccc 481 cctggccctt ctcagcggtg tcatctatgt gatcttgcgg aaacgcgaat gaggcgccca 541 gacggtctgt ctgaggctct gagcgtacat agggaaggga ggaagggaaa acagaaagca 601 g //