LOCUS AH000841 1723 bp DNA linear HUM 24-JAN-2017
DEFINITION Homo sapiens major peripheral myelin protein gene, exons 2 through
5 and partial cds; and exon 6.
ACCESSION AH000841 U10017 U10018
VERSION AH000841.2
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 1723)
AUTHORS Nelis,E., Timmerman,V., De Jonghe,P., Muylle,L., Martin,J. and Van
Broeckhoven,C.
TITLE Linkage and mutation analysis in an extended family with
Charcot-Marie-Tooth disease type 1B
JOURNAL Unpublished
REFERENCE 2 (bases 1 to 1723)
AUTHORS Nelis,E.
TITLE Direct Submission
JOURNAL Submitted (25-MAY-1994) Nelis E., Neurogenetics Lab. University of
Antwerp, Biochemistry, Universiteitsplein 1, Antwerp, Belgium, 2610
COMMENT On or before Jan 24, 2017 this sequence version replaced U10017.1,
U10018.1, AH000841.1.
FEATURES Location/Qualifiers
source 1..1723
/organism="Homo sapiens"
/mol_type="genomic DNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q21.3-q22"
intron <1..48
CDS join(<49..215,636..849,1093..1228,1387..1447,1578..1679)
/codon_start=3
/product="major peripheral myelin protein"
/protein_id="AAA18981.1"
/translation="LSPAQAIVVYTDREVHGAVGSRVTLHCSFWSSEWVSDDISFTWR
YQPEGGRDAISIFHYAKGQPYIDEVGTFKERIQWVGDPRWKDGSIVIHNLDYSDNGTF
TCDVKNPPDIVGKTSQVTLYVFEKVPTRYGVVLGAVIGGVLGVVLLLLLLFYVVRYCW
LRRQAALQRRLSAMEKGKLHKPGKDASKRGRQTPVLYAMLDHSRSTKAVSEKKAKGLG
ESRKDKK"
exon 49..215
/number=2
intron 216..>431
gap 432..531
/estimated_length=unknown
intron <532..635
exon 636..849
/number=3
intron 850..1092
exon 1093..1228
/number=4
intron 1229..1386
exon 1387..1447
/number=5
intron 1448..1577
exon 1578..1723
/number=6
3'UTR 1680..1723
BASE COUNT 354 a 415 c 503 g 351 t
ORIGIN
1 ccttactggg cccataggtg catctgattc cccactttgt gcttgcagtg ctgtccccgg
61 cccaggccat cgtggtttac accgacaggg aggtccatgg tgctgtgggc tcccgggtga
121 ccctgcactg ctccttctgg tccagtgagt gggtctcaga tgacatctcc ttcacctggc
181 gctaccagcc cgaagggggc agagatgcca tttcggtgag tgcctggggg aatcctgggg
241 ttggataaca gaaagtgctt caaagaacaa caaaaaagat aacttgggct aaggaggggg
301 aaatcctttt tgagccataa ccccaacttt ggcaaggtaa atgacagtct ttgtcaccct
361 gactacattg tcctcccttc tccagcacta ccctttccag cccaagatcc cttaccctga
421 ggctggagcg annnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn
481 nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nnnnnnnnnn nttttttttt
541 ttgctttttt ctttctgtaa caaattatgg agctaagctt tgacagctgt gttctcatta
601 gggtcctctc acatgcttcc cctcattcct catagatctt ccactatgcc aagggacaac
661 cctacattga cgaggtgggg accttcaaag agcgcatcca gtgggtaggg gaccctcgct
721 ggaaggatgg ctccattgtc atacacaacc tagactacag tgacaatggc acgttcactt
781 gtgacgtcaa aaaccctcca gacatagtgg gcaagacctc tcaggtcacg ctgtatgtct
841 ttgaaaaagg tgtgagaagg gatggggaca agggtatggg aagcagtttg ggaggggatc
901 agggaggact gacaggttgg gggaagaggc aaaaagcccg gcctaaggac ctttattcag
961 gctctgggag cgtgggcaga aggcagtttt agctgggagt cctacatcct caatgcaggg
1021 catacactcg gactaggaac cacagataca gggccctgct cattctccca cttcttttcc
1081 cacccctcct agtgccaact aggtacgggg tcgttctggg agctgtgatc gggggtgtcc
1141 tcggggtggt gctgttgctg ctgctgcttt tctacgtggt tcggtactgc tggctacgca
1201 ggcaggcggc cctgcagagg aggctcaggt aaggggcgag cctagctccc ctccccctct
1261 ccccactatc ccccatctgg gcggagacta ctccagtggg tgggagggcc aaggggaaga
1321 ggaagctgtg tccgcggtgc aaggggttcc gcgaggccaa acgtacagca gtctctcttc
1381 ttgcagtgct atggagaagg ggaaattgca caagccagga aaggacgcgt cgaagcgcgg
1441 gcggcaggtt agcgggactt ggggcctaga caagatggga aggagaaccc tgggagccgc
1501 cgggcagcag tgaggggtgg gatgggaaca gtcaagcccc agtcgctcgg tgactgatgt
1561 gtgcgcccct cccccagacg ccagtgctgt atgcaatgct ggaccacagc agaagcacca
1621 aagctgtcag tgagaagaag gccaaggggc tgggggagtc tcgcaaggat aagaaatagc
1681 ggttagcggg ccgggcgggg gatcgggggt taggggtgga gtc
//