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Table 2 Mapping of the datasets to UniProt protein sequences

From: Representativeness of variation benchmark datasets

dataset

no. of unique UniProt protein sequences

no. of variants mapped to a UniProt sequence

% variants mapped

maximum no. of variants mapped to a UniProt sequence

UniProt ID with maximum no. of variants

protein name

gene

DS1

17,571

378,706

84.9

1451

Q8WZ42

Titin

TTN

DS2

7230

18,660

78.8

71

P20929

Nebulin

NEB

DS3

1182

19,318

99.9

2294

P04637

Cellular tumor antigen p53

TP53

DS4

6541

15,880

81.6

56

P46013

Proliferation marker protein Ki-67

MKI67

DS5

1093

14,597

99.9

382

P00451

Coagulation factor VIII

F8

DS6

4895

13,811

78.4

71

P20929

Nebulin

NEB

DS7

953

17,514

99.9

2294

P04637

Cellular tumor antigen p53

TP53

DS8

4517

11,847

80.9

56

P46013

Proliferation marker protein Ki-67

MKI67

DS9

884

13,096

100.0

382

P00451

Coagulation factor VIII

F8

DS10

4997

10,882

83.3

27

Q86WI1

Fybrocystin-L

PKHD1L1

DS11

979

12,584

100.0

378

P00451

Coagulation factor VIII

F8

DS12

545

1288

80.2

14

Q13576

Ras GTPase-activating-like protein IQGAP2

IQGAP2

DS13

90

1301

100.0

100

P04839

Cytochrome b-245 heavy chain

CYBB

DS14

3799

7185

82.9

26

Q86WI1

Fybrocystin-L

PKHD1L1

DS15

785

7151

100.0

196

P00439

Phenylalanine-4-hydroxylase

PAH

DS16

424

848

80.5

11

Q8NEM0

Microcephalin

MCPH1

DS17

72

751

100.0

89

P04839

Cytochrome b-245 heavy chain

CYBB

DS18

3278

12,056

74.9

363

P00451

Coagulation factor VIII

F8

DS19

4129

10,154

98.9

1799

P04637

Cellular tumor antigen p53

TP53

DS20

3509

8662

97.9

137

P68871

Hemoglobin subunit beta

HBB

DS21

9038

39,735

98.4

460

P00451

Coagulation factor VIII

F8

DS22

8791

21,151

100.0

48

P20930, Q7Z442

Filaggrin, Polycystic kidney disease protein 1-like 2

FLG, PKD1L2

DS23

1852

22,196

100.0

472

P00451

Coagulation factor VIII

F8

DS24

12,735

75,042

100.0

1338

P04637

Cellular tumor antigen p53

TP53