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SH3TC2 cDNA ORF clone, Homo sapiens(Human)

Gene Symbol SH3TC2
Entrez Gene ID 79628
Full Name SH3 domain and tetratricopeptide repeats 2
Synonyms CMT4C,MNMN
General protein information
Preferred Names

SH3 domain and tetratricopeptide repeats 2

Names

SH3 domain and tetratricopeptide repeat-containing protein 2
SH3 domain and tetratricopeptide repeats-containing protein 2

Gene Type protein-coding
Organism Homo sapiens(Human)
Genome

5

5q32

Summary This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008].
Disorder MIM:

608206

Disorder Html: Charcot-Marie-Tooth disease, type 4C, 601596 (3); Mononeuropathy of

mRNA and Protein(s)

mRNA Protein Name
NM_024577.3 NP_078853.2 SH3 domain and tetratricopeptide repeat-containing protein 2



Bos taurus (cattle) SH3TC2 XP_002689331.1
Gallus gallus (chicken) SH3TC2 XP_424256.4
Danio rerio (zebrafish) LOC100535152 XP_003200002.2
Xenopus tropicalis (tropical clawed frog) sh3tc2 XP_002939154.2
Homo sapiens (human) SH3TC2 NP_078853.2
Pan troglodytes (chimpanzee) SH3TC2 XP_527069.2
Mus musculus (house mouse) Sh3tc2 NP_766216.2
Canis lupus familiaris (dog) SH3TC2 XP_005619374.1
Rattus norvegicus (Norway rat) Sh3tc2 XP_225887.5
Macaca mulatta (rhesus monkey) SH3TC2 XP_001104761.1
Danio rerio (zebrafish) sh3tc2 XP_005173355.1


Related articles in PubMed

Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C.
Ichikawa K, Numasawa K, Takeshita S, Hashiguchi A, Takashima H
Pediatrics international : official journal of the Japan Pediatric Society58(11)1252-1254(2016 Nov)

[Mutation analysis for a family affected with Charcot-Marie-Tooth disease type 4C].
Yu Z, Zhang J, Xu Y, Yang B, He Z, Zhang M, Shen W, Gu M
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics33(1)57-60(2016 Feb)

Phenotypic variability of CMT4C in a French-Canadian kindred.
Varley TL, Bourque PR, Baker SK
Muscle & nerve52(3)444-9(2015 Sep)

Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
Manganelli F, Tozza S, Pisciotta C, Bellone E, Iodice R, Nolano M, Geroldi A, Capponi S, Mandich P, Santoro L
Journal of the peripheral nervous system : JPNS19(4)292-8(2014 Dec)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive demyelinating form of CMT characterized clinically by early onset and severe spinal deformities, and is caused by mutations in SH3TC2.
Title: Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C.

A homozygous missense mutation c.1894G>A of SH3TC2 is associated with Charcot-Marie-Tooth disease type 4C.
Title: [Mutation analysis for a family affected with Charcot-Marie-Tooth disease type 4C].

DNA sequence analysis in a French-Canadian family revealed a novel combination of 2 known recessive mutations, p.R904X and p.R954X, in the SH3TC2 gene.
Title: Phenotypic variability of CMT4C in a French-Canadian kindred.

The novelty of our data is the relatively high frequency of SH3TC2 and GDAP1 mutations in demyelinating and axonal forms, respectively, of Charcot-Marie-Tooth disease
Title: Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.

SH3TC2 is regulated by the transcription factors CREB and SOX10, define a regulatory SNP at this disease-associated locus and reveal SH3TC2 as a candidate modifier locus of CMT disease phenotypes.
Title: Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.

The following SH3TC2 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the SH3TC2 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

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OHu26006 NM_024577.3
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** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu26006
Clone ID Related Accession (Same CDS sequence) NM_024577.3
Accession Version NM_024577.3 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 3867bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2017-04-28
Organism Homo sapiens(Human)
Product SH3 domain and tetratricopeptide repeat-containing protein 2
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA856608.1, AY341075.1, AC011364.4, AC116312.2 and AF086088.1. This sequence is a reference standard in the RefSeqGene project. On May 4, 2006 this sequence version replaced NM_024577.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY341075.1, BC113879.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03267757, SAMN03568912 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: full length.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
1921
1981
2041
2101
2161
2221
2281
2341
2401
2461
2521
2581
2641
2701
2761
2821
2881
2941
3001
3061
3121
3181
3241
3301
3361
3421
3481
3541
3601
3661
3721
3781
3841
ATGGGTGGCT GCTTCTGCAT CCCCAGGGAG CGGAGTCTGA CCCGGGGCCC AGGTAAAGAA 
ACTCCTTCCA AGGATCCAAC TGTATCGAGT GAGTGTATAG CCTCATCTGA ATACAAGGAA
AAATGTTTTC TGCCACAGAA CATTAATCCA GACCTGACAC TCTCCTTCTG TGTAAAGAGC
CGCTCCAGGA GGTGTGTAAA TGGACCCCTA CAGGAAGCTG CTCGGAGGCG GCTCTGGGCA
CTGGAGAATG AGGACCAGGA GGTGCGCATG CTGTTTAAGG ACCTCTCAGC AAGGTTGGTC
AGTATCCAGT CTCAGAGGGC CCAGTTTCTC ATCACCTTCA AGACCATGGA GGAAATCTGG
AAGTTCTCCA CCTACCTTAA TTTAGGCTAC GTATCCATGT GTCTAGAACA TCTCCTCTTT
GACCACAAGT ACTGGCTCAA CTGCATATTG GTGGAGGATA CAGAGATCCA AGTGTCTGTA
GATGATAAAC ACCTGGAAAC AATATACCTG GGACTCCTGA TACAGGAAGG CCACTTCTTC
TGCAGAGCCC TGTGCTCCGT GACTCCACCA GCCGAGAAGG AAGGGGAATG CTTGACACTT
TGCAAGAATG AGTTAATCTC AGTGAAGATG GCAGAAGCTG GCTCCGAGTT GGAAGGCGTG
TCTTTGGTGA CAGGTCAGCG GGGCCTGGTA CTGGTGTCAG CCTTGGAGCC TCTGCCTCTC
CCTTTCCACC AGTGGTTCCT AAAGAATTAT CCAGGAAGCT GTGGCCTTTC CAGGAAGAGG
GATTGGACAG GCTCCTATCA GATTGGCAGA GGACGCTGTA AGGCCTTGAC GGGTTATGAG
CCAGGAGAAA AGGATGAACT GAATTTCTAC CAGGGAGAAA GCATTGAGAT CATCGGCTTT
GTCATACCTG GGCTTCAGTG GTTCATTGGA AAGTCGACAA GTTCAGGACA AGTGGGCTTT
GTCCCCACCA GGAACATAGA TCCTGATTCT TATTCCCCAA TGAGCAGGAA CTCTGCCTTT
CTCAGTGATG AGGAGAGATG CTCCCTGTTG GCCCTGGGAA GTGATAAGCA GACTGAGTGT
TCCAGCTTCC TCCACACTCT TGCTCGCACT GACATCACAT CTGTCTACCG GCTCAGTGGG
TTTGAATCCA TCCAGAATCC TCCAAATGAT CTGAGTGCAT CCCAGCCTGA AGGTTTCAAG
GAGGTCAGGC CTGGCAGAGC CTGGGAGGAG CATCAGGCCG TGGGGTCCAG ACAGTCCAGC
AGCTCTGAGG ACTCCAGCCT GGAGGAGGAG CTCCTCTCGG CCACCTCAGA CAGCTATCGC
CTGCCGGAGC CTGATGACCT TGATGACCCG GAACTGCTCA TGGACCTAAG CACTGGTCAG
GAGGAGGAGG CTGAGAACTT CGCCCCCATA TTGGCTTTTC TGGATCATGA GGGTTATGCT
GACCACTTTA AGAGTCTCTA TGACTTCTCC TTCTCTTTCC TCACTTCTTC CTTTTATAGC
TTCTCTGAGG AGGATGAGTT TGTGGCCTAC CTGGAGGCAT CAAGAAAGTG GGCCAAGAAG
AGCCACATGA CCTGGGCCCA TGCCCGTCTC TGCTTCCTCC TGGGCCGGCT GAGCATCAGG
AAGGTCAAAC TCTCTCAGGC CAGGGTGTAC TTCGAGGAGG CCATCCACAT TCTCAATGGA
GCATTTGAGG ACCTATCCTT GGTGGCCACT CTGTACATCA ATTTGGCTGC CATCTACCTG
AAACAGAGGC TGAGACATAA AGGCTCCGCC CTGTTGGAAA AGGCAGGTGC CCTGCTGGCC
TGCCTGCCTG ACCGTGAGTC TAGTGCCAAG CATGAACTCG ACGTGGTGGC CTACGTGCTG
CGCCAGGGGA TTGTGGTGGG CAGCAGCCCG CTGGAGGCCA GGGCCTGCTT TCTGGCCATC
CGCTTGCTCC TGAGCCTAGG CCGGCACGAG GAGGTCCTGC CCTTTGCCGA GCGCCTGCAG
CTCCTCTCTG GACACCCTCC TGCCTCTGAG GCTGTGGCCA GTGTTTTGAG TTTTCTGTAT
GACAAGAAAT ATCTTCCACA CCTTGCAGTG GCCTCTGTCC AGCAACATGG TATCCAGAGT
GCCCAAGGGA TGTCTCTTCC TATTTGGCAG GTCCACCTTG TCCTCCAGAA CACAACCAAG
CTCCTTGGCT TTCCTTCCCC AGGCTGGGGT GAAGTTTCTG CCTTGGCCTG CCCAATGCTC
AGACAGGCCC TGGCTGCCTG TGAGGAACTA GCAGACCGGA GCACCCAGAG GGCCCTGTGT
CTCATCCTTT CCAAAGTGTA CCTCGAGCAC AGGTCTCCTG ACGGTGCCAT CCACTACCTG
AGCCAGGCCT TGGTGCTAGG GCAGCTGCTG GGTGAGCAGG AATCCTTTGA GTCTTCTCTC
TGCCTGGCAT GGGCCTATCT CTTAGCCAGC CAGGCCAAGA AGGCTTTGGA TGTGCTTGAG
CCACTGCTAT GCTCCCTGAA GGAGACAGAG AGTCTCACTC AAAGGGGAGT CATCTATAAC
CTCCTGGGAC TTGCACTCCA AGGTGAAGGC CGGGTGAACA GGGCAGCCAA GAGCTATCTT
CGGGCCTTGA ACAGAGCCCA GGAGGTGGGA GATGTGCATA ACCAGGCAGT GGCTATGGCC
AATCTTGGCC ACCTGAGCCT TAAGTCCTGG GCTCAGCATC CAGCCAGAAA CTATCTCCTG
CAGGCTGTAC GACTCTATTG TGAACTTCAG GCCAGTAAGG AGACAGACAT GGAATTAGTA
CAGGTGTTTC TCTGGTTGGC CCAAGTTCTG GTGTCTGGAC ACCAGCTGAC CCATGGCCTT
CTTTGTTATG AAATGGCATT GCTGTTTGGC TTAAGGCATC GACATCTAAA GAGTCAGCTT
CAGGCCACCA AATCCCTCTG CCATTTCTAC AGCTCTGTGT CCCCAAACCC TGAGGCATGC
ATCACCTACC ATGAGCACTG GCTGGCCCTG GCTCAGCAAC TCAGGGACCG GGAGATGGAA
GGGAGGCTGC TGGAGTCCCT GGGGCAGCTT TATCGGAACC TAAATACCGC CAGGTCCCTC
AGGAGGTCAC TCACATGCAT CAAGGAGAGC CTGCGTATCT TCATTGACCT GGGGGAGACA
GACAAGGCTG CTGAGGCCTG GCTTGGGGCG GGGCGACTCC ACTACCTCAT GCAGGAAGAC
GAGCTGGTGG AGCTGTGCCT GCAGGCAGCC ATCCAGACAG CCCTGAAGTC AGAGGAGCCT
TTGCTGGCTC TCAAACTTTA TGAAGAAGCA GGTGATGTGT TCTTCAATGG GACCCGCCAC
AGGCATCATG CAGTGGAGTA CTACCGAGCT GGAGCTGTTC CTTTAGCAAG GAGGTTGAAG
GCGGTGAGAA CTGAGCTCCG GATTTTCAAT AAGCTGACAG AGCTGCAGAT TAGCCTCGAA
GGCTATGAGA AGGCTTTGGA ATTTGCCACC CTGGCCGCCA GGCTCAGCAC AGTCACAGGA
GATCAGAGGC AAGAGCTGGT GGCCTTTCAC CGCCTGGCTA CAGTGTACTA CTCCCTGCAC
ATGTATGAGA TGGCTGAGGA CTGCTACCTG AAGACCCTGT CCCTCTGTCC ACCATGGCTG
CAGAGTCCCA AGGAGGCCCT GTACTATGCC AAGGTGTATT ATCGCCTGGG CAGACTCACC
TTCTGCCAGC TGAAGGATGC CCATGATGCC ACTGAGTACT TCCTTCTGGC CCTGGCAGCA
GCGGTCCTGC TGGGTGATGA GGAGCTTCAG GACACCATTA GGAGCAGGCT GGACAACATC
TGCCAGAGCC CCCTGTGGCA CAGCAGGCCC TCCGGGTGCT CCTCAGAGAG GGCGCGGTGG
CTGAGTGGTG GTGGCCTGGC CCTCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_078853.2
CDS153..4019
Misc Feature(1)138..140
Misc Feature(2)966..1130
Misc Feature(3)order(981..983,987..989,996..998,1008..1010,1068..1073,1116..1118,1122..1127)
Misc Feature(4)1734..1835
Misc Feature(5)2421..2522
Misc Feature(6)2658..2759
Misc Feature(7)2664..2870
Misc Feature(8)3153..3263
Misc Feature(9)3402..3506
Misc Feature(10)3507..3608
Misc Feature(11)order(3531..3533,3540..3545,3552..3557,3561..3563,3651..3653,3660..3665,3672..3677,3681..3686,3783..3785,3792..3797,3804..3809,3819..3821)
Misc Feature(12)3531..3614
Misc Feature(13)3645..3737
Misc Feature(14)3648..3749
Misc Feature(15)3654..3743
Misc Feature(16)3780..3884
Misc Feature(17)3780..3854
Exon (1)1..204
Exon (2)205..303
Exon (3)304..431
Exon (4)432..537
Exon (5)538..681
Exon (6)682..883
Exon (7)884..957
Exon (8)958..1153
Exon (9)1154..1287
Exon (10)1288..1329
Exon (11)1330..3024
Exon (12)3025..3205
Exon (13)3206..3356
Exon (14)3357..3479
Exon (15)3480..3630
Exon (16)3631..3827
Exon (17)3828..26580
Translation

Target ORF information:

RefSeq Version NM_024577.3
Organism Homo sapiens(Human)
Definition Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_024577.3

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
1081
1141
1201
1261
1321
1381
1441
1501
1561
1621
1681
1741
1801
1861
1921
1981
2041
2101
2161
2221
2281
2341
2401
2461
2521
2581
2641
2701
2761
2821
2881
2941
3001
3061
3121
3181
3241
3301
3361
3421
3481
3541
3601
3661
3721
3781
3841
ATGGGTGGCT GCTTCTGCAT CCCCAGGGAG CGGAGTCTGA CCCGGGGCCC AGGTAAAGAA 
ACTCCTTCCA AGGATCCAAC TGTATCGAGT GAGTGTATAG CCTCATCTGA ATACAAGGAA
AAATGTTTTC TGCCACAGAA CATTAATCCA GACCTGACAC TCTCCTTCTG TGTAAAGAGC
CGCTCCAGGA GGTGTGTAAA TGGACCCCTA CAGGAAGCTG CTCGGAGGCG GCTCTGGGCA
CTGGAGAATG AGGACCAGGA GGTGCGCATG CTGTTTAAGG ACCTCTCAGC AAGGTTGGTC
AGTATCCAGT CTCAGAGGGC CCAGTTTCTC ATCACCTTCA AGACCATGGA GGAAATCTGG
AAGTTCTCCA CCTACCTTAA TTTAGGCTAC GTATCCATGT GTCTAGAACA TCTCCTCTTT
GACCACAAGT ACTGGCTCAA CTGCATATTG GTGGAGGATA CAGAGATCCA AGTGTCTGTA
GATGATAAAC ACCTGGAAAC AATATACCTG GGACTCCTGA TACAGGAAGG CCACTTCTTC
TGCAGAGCCC TGTGCTCCGT GACTCCACCA GCCGAGAAGG AAGGGGAATG CTTGACACTT
TGCAAGAATG AGTTAATCTC AGTGAAGATG GCAGAAGCTG GCTCCGAGTT GGAAGGCGTG
TCTTTGGTGA CAGGTCAGCG GGGCCTGGTA CTGGTGTCAG CCTTGGAGCC TCTGCCTCTC
CCTTTCCACC AGTGGTTCCT AAAGAATTAT CCAGGAAGCT GTGGCCTTTC CAGGAAGAGG
GATTGGACAG GCTCCTATCA GATTGGCAGA GGACGCTGTA AGGCCTTGAC GGGTTATGAG
CCAGGAGAAA AGGATGAACT GAATTTCTAC CAGGGAGAAA GCATTGAGAT CATCGGCTTT
GTCATACCTG GGCTTCAGTG GTTCATTGGA AAGTCGACAA GTTCAGGACA AGTGGGCTTT
GTCCCCACCA GGAACATAGA TCCTGATTCT TATTCCCCAA TGAGCAGGAA CTCTGCCTTT
CTCAGTGATG AGGAGAGATG CTCCCTGTTG GCCCTGGGAA GTGATAAGCA GACTGAGTGT
TCCAGCTTCC TCCACACTCT TGCTCGCACT GACATCACAT CTGTCTACCG GCTCAGTGGG
TTTGAATCCA TCCAGAATCC TCCAAATGAT CTGAGTGCAT CCCAGCCTGA AGGTTTCAAG
GAGGTCAGGC CTGGCAGAGC CTGGGAGGAG CATCAGGCCG TGGGGTCCAG ACAGTCCAGC
AGCTCTGAGG ACTCCAGCCT GGAGGAGGAG CTCCTCTCGG CCACCTCAGA CAGCTATCGC
CTGCCGGAGC CTGATGACCT TGATGACCCG GAACTGCTCA TGGACCTAAG CACTGGTCAG
GAGGAGGAGG CTGAGAACTT CGCCCCCATA TTGGCTTTTC TGGATCATGA GGGTTATGCT
GACCACTTTA AGAGTCTCTA TGACTTCTCC TTCTCTTTCC TCACTTCTTC CTTTTATAGC
TTCTCTGAGG AGGATGAGTT TGTGGCCTAC CTGGAGGCAT CAAGAAAGTG GGCCAAGAAG
AGCCACATGA CCTGGGCCCA TGCCCGTCTC TGCTTCCTCC TGGGCCGGCT GAGCATCAGG
AAGGTCAAAC TCTCTCAGGC CAGGGTGTAC TTCGAGGAGG CCATCCACAT TCTCAATGGA
GCATTTGAGG ACCTATCCTT GGTGGCCACT CTGTACATCA ATTTGGCTGC CATCTACCTG
AAACAGAGGC TGAGACATAA AGGCTCCGCC CTGTTGGAAA AGGCAGGTGC CCTGCTGGCC
TGCCTGCCTG ACCGTGAGTC TAGTGCCAAG CATGAACTCG ACGTGGTGGC CTACGTGCTG
CGCCAGGGGA TTGTGGTGGG CAGCAGCCCG CTGGAGGCCA GGGCCTGCTT TCTGGCCATC
CGCTTGCTCC TGAGCCTAGG CCGGCACGAG GAGGTCCTGC CCTTTGCCGA GCGCCTGCAG
CTCCTCTCTG GACACCCTCC TGCCTCTGAG GCTGTGGCCA GTGTTTTGAG TTTTCTGTAT
GACAAGAAAT ATCTTCCACA CCTTGCAGTG GCCTCTGTCC AGCAACATGG TATCCAGAGT
GCCCAAGGGA TGTCTCTTCC TATTTGGCAG GTCCACCTTG TCCTCCAGAA CACAACCAAG
CTCCTTGGCT TTCCTTCCCC AGGCTGGGGT GAAGTTTCTG CCTTGGCCTG CCCAATGCTC
AGACAGGCCC TGGCTGCCTG TGAGGAACTA GCAGACCGGA GCACCCAGAG GGCCCTGTGT
CTCATCCTTT CCAAAGTGTA CCTCGAGCAC AGGTCTCCTG ACGGTGCCAT CCACTACCTG
AGCCAGGCCT TGGTGCTAGG GCAGCTGCTG GGTGAGCAGG AATCCTTTGA GTCTTCTCTC
TGCCTGGCAT GGGCCTATCT CTTAGCCAGC CAGGCCAAGA AGGCTTTGGA TGTGCTTGAG
CCACTGCTAT GCTCCCTGAA GGAGACAGAG AGTCTCACTC AAAGGGGAGT CATCTATAAC
CTCCTGGGAC TTGCACTCCA AGGTGAAGGC CGGGTGAACA GGGCAGCCAA GAGCTATCTT
CGGGCCTTGA ACAGAGCCCA GGAGGTGGGA GATGTGCATA ACCAGGCAGT GGCTATGGCC
AATCTTGGCC ACCTGAGCCT TAAGTCCTGG GCTCAGCATC CAGCCAGAAA CTATCTCCTG
CAGGCTGTAC GACTCTATTG TGAACTTCAG GCCAGTAAGG AGACAGACAT GGAATTAGTA
CAGGTGTTTC TCTGGTTGGC CCAAGTTCTG GTGTCTGGAC ACCAGCTGAC CCATGGCCTT
CTTTGTTATG AAATGGCATT GCTGTTTGGC TTAAGGCATC GACATCTAAA GAGTCAGCTT
CAGGCCACCA AATCCCTCTG CCATTTCTAC AGCTCTGTGT CCCCAAACCC TGAGGCATGC
ATCACCTACC ATGAGCACTG GCTGGCCCTG GCTCAGCAAC TCAGGGACCG GGAGATGGAA
GGGAGGCTGC TGGAGTCCCT GGGGCAGCTT TATCGGAACC TAAATACCGC CAGGTCCCTC
AGGAGGTCAC TCACATGCAT CAAGGAGAGC CTGCGTATCT TCATTGACCT GGGGGAGACA
GACAAGGCTG CTGAGGCCTG GCTTGGGGCG GGGCGACTCC ACTACCTCAT GCAGGAAGAC
GAGCTGGTGG AGCTGTGCCT GCAGGCAGCC ATCCAGACAG CCCTGAAGTC AGAGGAGCCT
TTGCTGGCTC TCAAACTTTA TGAAGAAGCA GGTGATGTGT TCTTCAATGG GACCCGCCAC
AGGCATCATG CAGTGGAGTA CTACCGAGCT GGAGCTGTTC CTTTAGCAAG GAGGTTGAAG
GCGGTGAGAA CTGAGCTCCG GATTTTCAAT AAGCTGACAG AGCTGCAGAT TAGCCTCGAA
GGCTATGAGA AGGCTTTGGA ATTTGCCACC CTGGCCGCCA GGCTCAGCAC AGTCACAGGA
GATCAGAGGC AAGAGCTGGT GGCCTTTCAC CGCCTGGCTA CAGTGTACTA CTCCCTGCAC
ATGTATGAGA TGGCTGAGGA CTGCTACCTG AAGACCCTGT CCCTCTGTCC ACCATGGCTG
CAGAGTCCCA AGGAGGCCCT GTACTATGCC AAGGTGTATT ATCGCCTGGG CAGACTCACC
TTCTGCCAGC TGAAGGATGC CCATGATGCC ACTGAGTACT TCCTTCTGGC CCTGGCAGCA
GCGGTCCTGC TGGGTGATGA GGAGCTTCAG GACACCATTA GGAGCAGGCT GGACAACATC
TGCCAGAGCC CCCTGTGGCA CAGCAGGCCC TCCGGGTGCT CCTCAGAGAG GGCGCGGTGG
CTGAGTGGTG GTGGCCTGGC CCTCTGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C.
Pediatrics international : official journal of the Japan Pediatric Society58(11)1252-1254(2016 Nov)
Ichikawa K,Numasawa K,Takeshita S,Hashiguchi A,Takashima H


book

[Mutation analysis for a family affected with Charcot-Marie-Tooth disease type 4C].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics33(1)57-60(2016 Feb)
Yu Z,Zhang J,Xu Y,Yang B,He Z,Zhang M,Shen W,Gu M


book

Phenotypic variability of CMT4C in a French-Canadian kindred.
Muscle & nerve52(3)444-9(2015 Sep)
Varley TL,Bourque PR,Baker SK


book

Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
Journal of the peripheral nervous system : JPNS19(4)292-8(2014 Dec)
Manganelli F,Tozza S,Pisciotta C,Bellone E,Iodice R,Nolano M,Geroldi A,Capponi S,Mandich P,Santoro L


 
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