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Tuberous Sclerosis Project Home Page

Boston, MA 02115. Research laboratory of Dr. David Kwiatkowski. Mutation identification by Yew-Sing Choy, Ronald Perez, Sandra Dabora, Penelope S. Roberts, David Kwiatkowski. Web-site developed by Penelope S. Roberts and Dr. David Kwiatkowski. Mutation and Benign Variation Databases. Database - For TSC2 there are several possible numbering systems that are in use. We number from the first base of the initiator ATG coding. We also include all of the alternatively spliced exons in our numbering sys...Misse...

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Tuberous Sclerosis Project Home Page | tsc-project.partners.org Reviews

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Boston, MA 02115. Research laboratory of Dr. David Kwiatkowski. Mutation identification by Yew-Sing Choy, Ronald Perez, Sandra Dabora, Penelope S. Roberts, David Kwiatkowski. Web-site developed by Penelope S. Roberts and Dr. David Kwiatkowski. Mutation and Benign Variation Databases. Database - For TSC2 there are several possible numbering systems that are in use. We number from the first base of the initiator ATG coding. We also include all of the alternatively spliced exons in our numbering sys...Misse...

<META> KEYWORDS

1 tuberous sclerosis project

2 one blackfan circle

3 abbreviation

4 definition

5 delfs

6 insfs

7 infrdel conf

8 mis conf

9 mis poss

10 mis prob

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tuberous sclerosis project,one blackfan circle,abbreviation,definition,delfs,insfs,infrdel conf,mis conf,mis poss,mis prob,mis spl conf,nonsense mutation,r polym,rare polymorphism,r polym prob,rare polymorphism probable,splice mutation,seen,seen %

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Tuberous Sclerosis Project Home Page | tsc-project.partners.org Reviews

https://tsc-project.partners.org

Boston, MA 02115. Research laboratory of Dr. David Kwiatkowski. Mutation identification by Yew-Sing Choy, Ronald Perez, Sandra Dabora, Penelope S. Roberts, David Kwiatkowski. Web-site developed by Penelope S. Roberts and Dr. David Kwiatkowski. Mutation and Benign Variation Databases. Database - For TSC2 there are several possible numbering systems that are in use. We number from the first base of the initiator ATG coding. We also include all of the alternatively spliced exons in our numbering sys...Misse...

INTERNAL PAGES

tsc-project.partners.org

1

TSC1 Variations +1 ATG, 8/8/99

http://tsc-project.partners.org/TSC1-1.htm

TSC1 Variations 1 ATG, 8/8/99. Method used to determined mut/poly status. 49Y-FS-X early at 61. Published as 367delT, Ts present at 365,366 and 370 but not 367. Seen in 3/63 patients, het 0.048, published as 431 32G A. Parents tested negative for the mutation. Found in blinded analysis. 112L-FS-X early at 118. Listed as a 'problem' linked family. 124T-FS-X early at 125. 176Y-FS-X early at 216. Found in blinded analysis. Seen in one or more unaffected parents/controls. Rare allele freq 0.003. Also reporte...

2

Tuberous Sclerosis Project Home Page

http://tsc-project.partners.org/index.htm

Boston, MA 02115. Research laboratory of Dr. David Kwiatkowski. Mutation identification by Yew-Sing Choy, Ronald Perez, Sandra Dabora, Penelope S. Roberts, David Kwiatkowski. Web-site developed by Penelope S. Roberts and Dr. David Kwiatkowski. Mutation and Benign Variation Databases. Database - For TSC2 there are several possible numbering systems that are in use. We number from the first base of the initiator ATG coding. We also include all of the alternatively spliced exons in our numbering sys...Misse...

3

Dabora SL, Sigalas I, Hall F, Eng C, Vijg J, Kwiatkowski DJ; "Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE"

http://tsc-project.partners.org/reftsc1web.htm

Mary Pat Reeve's TSC1 references. 1 Dabora SL, Sigalas I, Hall F, Eng C, Vijg J, Kwiatkowski DJ. Comprehensive mutation analysis of TSC1 using two-dimensional DNA electrophoresis with DGGE". Ann Hum Genet 1998 Nov;62 (Pt 6):491-504. 2 vanSlegtenhorst M, Verhoef S, Tempelaars A, Bakker L, Wang Q, Wessels M, Bakker R, Nellist M, Lindhout D, Halley D, van den Ouweland A. Smith M, Sperling D. 4 Young JM, Burley MW, Jeremiah SJ, Jeganathan D, Ekong R, Osborne JP, Povey S. 7 Rose VM, Au KS, Pollom G, Roach ES,...

4

TSC2 Variations +19 ATG, 8/8/99

http://tsc-project.partners.org/TSC2-19.htm

TSC2 Variations 19 ATG, 8/8/99. Method used to determined mut/poly status. Parents not available for testing. Published as 273T C, Val85; nucleotides transposed. Observed in unaffected controls, reported as 298A C,Thr94Pro, nucleotides transposed. 500-7C A;500-6C A]. 163F-FS-X early at 187. 176F-FS-X early at 181. Not seen in any controls. Published as 730C G, off by one, freq 0.013. 277C-FS-X early at 337. 15bp duplication flanked by 2 short direct repeats of TGGG. Listed as exon 10, should be intron 9.

5

TSC2 Variations +1 ATG, 8/8/99

http://tsc-project.partners.org/TSC2-1.htm

TSC2 Variations 1 ATG, 8/8/99. Method used to determined mut/poly status. Parents not available for testing. Published as 273T C, Val85; nucleotides transposed. Observed in unaffected controls, reported as 298A C,Thr94Pro, nucleotides transposed. 482-7C A;482-6C A]. 163F-FS-X early at 187. 176F-FS-X early at 181. Not seen in any controls. Published as 730C G, off by one, freq 0.013. 277C-FS-X early at 337. 15bp duplication flanked by 2 short direct repeats of TGGG. Listed as exon 10, should be intron 9.

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Boston, MA 02115. Research laboratory of Dr. David Kwiatkowski. Mutation identification by Yew-Sing Choy, Ronald Perez, Sandra Dabora, Penelope S. Roberts, David Kwiatkowski. Web-site developed by Penelope S. Roberts and Dr. David Kwiatkowski. Mutation and Benign Variation Databases. Database - For TSC2 there are several possible numbering systems that are in use. We number from the first base of the initiator ATG coding. We also include all of the alternatively spliced exons in our numbering sys...Misse...

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