Table 11

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

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]


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.

Pellegrini et al. BMC Bioinformatics 2012 13(Suppl 4):S3   doi:10.1186/1471-2105-13-S4-S3

Open Data