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Table 11 Table of pathogenic in/dels in Homo sapiens from dbSNP and covering fuzzy tandem repeats.

From: Tandem repeats discovery service (TReaDS) applied to finding novel cis-acting factors in repeat expansion diseases

Gene/Protein Seq length Num. path. in/dels Covered by FTR FTR  
CFTR/MRP 1000 (*) 2 0 -  
OTC 1000 (*) 3 2 [117 - 883], [429 - 569]
OTC 1647 30 0 -  
HS mitochondrion 16569 1 0 -  
NSDHL 1581 2 0 -  
GJB1 1623 2 1 [319-373]  
SLC16A2 4396 2 0 -  
SLC6A8 3580 2 0 -  
CACNA1F 6080 1 0 -  
FLNA 8533 1 1 [280 329]  
KCNQ2 3158 21 5 [162-275] [1666-1691]
     [2188-2214] [2654-2728]
  1. Table of pathogenic in/dels in Homo sapiens from dbSNP and covering fuzzy tandem repeats. The table reports: gene/protein code, NCBI code for the analyzed sequence, sequence length, codes of pathogenic in/del, number of pathogenic in/dels covered by FTR, FTR [Begin - End] if existing. (*) indicates that the analysis has been done on a subsequence of length 1000 centered on the position of each in/del.