LOCUS AF321192 5502 bp mRNA linear HUM 15-MAR-2001
DEFINITION Homo sapiens S-periaxin (PRX) mRNA, complete cds, alternatively
spliced.
ACCESSION AF321192
VERSION AF321192.1
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 5502)
AUTHORS Boerkoel,C.F., Takashima,H., Stankiewicz,P., Garcia,C.A.,
Leber,S.M., Rhee-Morris,L. and Lupski,J.R.
TITLE Periaxin mutations cause recessive Dejerine-Sottas neuropathy
JOURNAL Am. J. Hum. Genet. 68 (2), 325-333 (2001)
PUBMED 11133365
REFERENCE 2 (bases 1 to 5502)
AUTHORS Boerkoel,C.F., Takashima,H. and Lupski,J.R.
TITLE Direct Submission
JOURNAL Submitted (13-NOV-2000) Molecular and Human Genetics, Baylor
College of Medicine, One Baylor Plaza, Room 609E, Houston, TX
77030, USA
FEATURES Location/Qualifiers
source 1..5502
/db_xref="H-InvDB:HIT000077383"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="19"
/map="19q13.13-q13.2"
gene 1..5502
/gene="PRX"
CDS 270..713
/gene="PRX"
/note="PDZ domain protein; myelin sheath maintenance;
alternatively spliced"
/codon_start=1
/product="S-periaxin"
/protein_id="AAK19280.1"
/translation="MEARSRSAEELRRAELVEIIVETEAQTGVSGINVAGGGKEGIFV
RELREDSPAARSLSLQEGDQLLSARVFFENFKYEDALRLLQCAEPYKVSFCLKRTVPT
GDLALRPGTVSGYEIKGPRAKVAKLVRVLSPAPALDCPSDPVSAP"
variation 575
/gene="PRX"
/replace="t"
variation 803
/gene="PRX"
/replace="t"
variation 1019
/gene="PRX"
/replace="c"
variation 2134
/gene="PRX"
/replace="a"
variation 2401
/gene="PRX"
/replace="c"
variation 2409
/gene="PRX"
/replace="g"
variation 3563
/gene="PRX"
/replace="c"
variation 3573
/gene="PRX"
/replace="c"
variation 3681
/gene="PRX"
/replace="g"
variation 4166
/gene="PRX"
/replace="g"
variation 4312
/gene="PRX"
/replace="g"
variation 4693
/gene="PRX"
/replace="a"
variation 4992..4996
/gene="PRX"
/replace="gg"
variation 5149
/gene="PRX"
/replace="t"
BASE COUNT 1089 a 1606 c 1859 g 948 t
ORIGIN
1 gctctcgagg tgtctggagg ctcagcgagc gccggaccca ggaggcccaa ggagctggag
61 gtgaccctca ggcagcaaga accccacgga agggcgtgag ccctgcagac agctgtgcgg
121 cacctcgggc tgggctcctg ttaggaggaa gtgcctgcac ccaggcagcg gctcagaggc
181 agctgctcca tgcagaactg aagctggttc tgcagcagaa aggggagagg acacaggagc
241 ctggggtgca ggtgcctccc agcaacgcca tggaggccag gagccggagt gccgaggagc
301 tgaggcgggc ggagttggtg gaaattatcg tggagacgga ggcgcagacc ggggtcagcg
361 gcatcaacgt agcgggcggc ggcaaagagg gaatcttcgt tcgggagctg cgcgaggact
421 cacccgccgc caggagcctc agcctgcagg aaggggacca gctgctgagt gcccgagtgt
481 tcttcgagaa cttcaagtac gaggacgcac tacgcctgct gcaatgcgcc gagccttaca
541 aagtctcctt ctgcctgaag cgcactgtgc ccaccgggga cctggctctg cggcccggga
601 ccgtgtctgg ctacgagatc aagggcccgc gggccaaggt ggccaagctg gtacgcgtgc
661 ttagcccggc cccggccctg gactgcccca gcgatccggt ctctgcgccg tgagccccat
721 tccccgccat cgtgggccag ccttgccctc tgtcttgtca ctaacccaag ctaattccac
781 cctctgcccc ttcctctctg ccccaaactc ttccccggga agggggacag acccacccca
841 gcccagggcc ctcacccacc tcggagaggc gtccccacca tcggatccag gcttgctagg
901 ggtcctgaac caggctactt cgaaccagga aagccagatt ccagcctgag tgctggccca
961 attactgctg agtggccctg gacaaagttg tttctctccc tgggcctcag tttccccatc
1021 tctagaatga ggatgttggg gaaaatcccg gatcaggatc tagaagtctt gggtccccgt
1081 ccctacactc ctgttgactc atttggagat cctagatggc tgcctgcttt cctgggcact
1141 catggtgaaa tgacaggcaa gaagtgggga tgatgtttgg ggaacaagat acttgaccca
1201 gcacatcccc cgcctggtcc aataccaggt ggggctcttc ctgtccactc ccagcctccc
1261 actgtcccac cgcctcctgc ctctctcctc tctccccaga acatccagag tctgtcccct
1321 gtgaagaaga agaagatggt gcctggggct ctgggggtcc ccgctgacct ggcccctgtt
1381 gacgtcgagt tctcctttcc caagttctcc cgcctgcgtc ggggcctcaa agccgaggct
1441 gtcaagggtc ctgtcccggc tgcccctgcc cgccggcgcc tccagctgcc tcggctgcgt
1501 gtacgagaag tggccgaaga ggctcaggca gcccggctgg ccgccgccgc tcctcccccc
1561 aggaaagcca aggtggaggc tgaggtggct gcaggagctc gtttcacagc ccctcaggtg
1621 gagctggttg ggccgcggct gccaggggcg gaggtgggtg tcccccaggt ctcagccccc
1681 aaggctgccc cctcagcaga ggcagctggt ggctttgccc tccacctgcc aacccttggg
1741 ctcggagccc cggctccgcc tgctgtggag gccccagccg tgggaatcca ggtcccccag
1801 gtggagctgc ctgccttgcc ctcactgccc actctgccca cacttccctg cctagagacc
1861 cgggaagggg ctgtgtcggt agtggtgccc accctggatg tggcagcacc gactgtgggg
1921 gtggacctgg ccttgccggg tgcagaggtg gaggcccggg gagaggcacc tgaggtggcc
1981 ctgaagatgc cccgccttag ttttccccga tttggggctc gagcaaagga agttgctgag
2041 gccaaggtag ccaaggtcag ccctgaggcc agggtgaaag gtcccagact tcgaatgccc
2101 acctttgggc tttccctctt ggagccccgg cccgctgctc ctgaagttgt agagagcaag
2161 ctgaagctgc ccaccatcaa gatgccctcc cttggcatcg gagtgtcagg gcccgaggtc
2221 aaggtgccca agggacctga agtgaagctc cccaaggctc ctgaggtcaa gcttccaaaa
2281 gtgcccgagg cagcccttcc agaggttcga ctcccagagg tggagctccc caaggtgtca
2341 gagatgaaac tcccaaaggt gccagagatg gctgtgccgg aggtgcggct tccagaggta
2401 gagctgccca aagtgtcaga gatgaaactc ccaaaggtgc cagagatggc tgtgccggag
2461 gtgcggcttc cagaggtaca gctgctgaaa gtgtcggaga tgaaactccc aaaggtgcca
2521 gagatggctg tgccggaggt gcggcttcca gaggtacagc tgccgaaagt gtcagagatg
2581 aaactcccag aggtgtcaga ggtggctgtg ccagaggtgc ggcttccaga ggtgcagctg
2641 ccgaaagtgc cagagatgaa agtccctgag atgaagcttc caaaggtgcc tgagatgaaa
2701 cttcctgaga tgaaactccc tgaagtgcaa ctcccgaagg tgcccgagat ggccgtgccc
2761 gatgtgcacc tcccagaagt gcagcttcca aaagtcccag agatgaagct ccctgagatg
2821 aaactccctg aggtgaaact cccgaaggtg cccgagatgg ctgtgcccga tgtgcacctc
2881 ccggaagtgc agctcccgaa agtcccagag atgaaactcc ctaaaatgcc tgagatggct
2941 gtgccagagg ttcgactccc cgaggtgcag ctgccaaaag tctcagagat gaaactcccc
3001 aaggtgcctg aaatggccgt gcccgatgtg cacctcccag aggtgcagct gcccaaagtc
3061 tgtgaaatga aagtccctga catgaagctc ccagagataa aactccccaa ggtgcctgag
3121 atggctgtgc ccgatgtgca cctccccgag gtgcagctgc cgaaagtgtc agagattcgg
3181 ctgccggaaa tgcaagtgcc gaaggttccc gacgtgcatc ttccgaaggc accagaggtg
3241 aagctgccca gggctccgga ggtgcagcta aaggccacca aggcagaaca ggcagaaggg
3301 atggaatttg gcttcaagat gcccaagatg accatgccca agctagggag ggcagagtcc
3361 ccatcacgtg gcaagccagg cgaggcgggt gctgaggtct cagggaagct ggtaacactt
3421 ccctgtctgc agccagaggt ggatggtgag gctcatgtgg gtgtcccctc tctcactctg
3481 ccttcagtgg agctagacct gccaggagca cttggcctgc aggggcaggt cccagccgct
3541 aaaatgggca agggagagcg ggtggagggc cctgaggtgg cagcaggggt cagggaagtg
3601 ggcttccgag tgccctctgt tgaaattgtc accccacagc tgcccgccgt ggaaattgag
3661 gaagggcggc tggagatgat agagacaaaa gtcaagccct cttccaagtt ctccttacct
3721 aagtttggac tctcggggcc aaaggtggct aaggcagagg ctgagggggc tgggcgagct
3781 accaagctga aggtatccaa atttgccatc tcactcccca aggctcgggt gggggctgag
3841 gctgaggcca aaggggctgg ggaggcaggc ctgctgcctg ccctcgatct gtccatccca
3901 cagctcagcc tggatgccca cctgccctca ggcaaggtag aggtggcagg ggccgacctc
3961 aagttcaagg ggcccaggtt tgctctcccc aagtttgggg tcagaggccg ggacactgag
4021 gcagcagaac tagtgccagg ggtggctgag ttggagggca agggctgggg ctgggatggg
4081 agggtgaaga tgcccaagct gaagatgcct tcctttgggc tggctcgagg gaaggaagca
4141 gaagttcaag gtgatcgtgc cagcccgggg gaaaaggctg agtccaccgc tgtgcagctt
4201 aagatccccg aggtggagct ggtcacgctg ggcgcccagg aggaagggag ggcagagggg
4261 gctgtggccg tcagtggaat gcagctgtca ggcctgaagg tgtccacagc caggcaggtg
4321 gtcactgagg gccatgacgc ggggctgagg atgcctccgc tgggcatctc cctgccacag
4381 gtggagctga ccggctttgg ggaggcaggt accccagggc agcaggctca gagtacagtc
4441 ccttcagcag agggcacagc aggctacagg gttcaggtgc cccaggtgac cctgtctctg
4501 cctggagccc aggttgcagg tggtgagctg ctggtgggtg agggtgtctt taagatgccc
4561 accgtgacag tgccccagct tgagctggac gtggggctaa gccgagaggc acaggcgggc
4621 gaggcggcca caggcgaggg tgggctgagg ctgaagttgc ccacactggg ggccagagct
4681 agggtggggg gcgagggtgc tgaggagcag cccccagggg ccgagcgtac cttctgcctc
4741 tcactgcccg acgtggagct ctcgccatcc gggggcaacc atgccgagta ccaggtggca
4801 gagggggagg gagaggccgg acacaagctc aaggtacggc tgccccggtt tggcctggtg
4861 cgggccaagg agggggccga ggagggtgag aaggccaaga gccccaaact caggctgccc
4921 cgagtgggct tcagccaaag tgagatggtc actggggaag ggtcccccag ccccgaggag
4981 gaggaggagg aggaggaaga gggcagtggg gaaggggcct cgggtcgccg gggccgggtc
5041 cgggtccgct tgccacgtgt aggcctggcg gccccttcta aagcctctcg ggggcaggag
5101 ggcgatgcag cccccaagtc ccccgtcaga gagaagtcac ccaagttccg cttccccagg
5161 gtgtccctaa gccccaaggc ccggagtggg agtggggacc aggaagaggg tggattgcgg
5221 gtgcggctgc ccagcgtggg gttttcagag acaggggctc caggcccggc caggatggag
5281 ggggctcagg ctgcggctgt ctgaagcccc tagtcagatg gggatccctt cttgccttcc
5341 tttctctacc ccctcgctgt tgtgtgtgtg ataactagca ctaaccctaa gagggccggg
5401 aggtgggtga ctgaccaggg ctggcaggga ggcctgctcc tgtctctctg gcaggagtgc
5461 ctgtacccca ccaagccatg tgaataaaat aatctggaag ta
//