The last two columns indicate UMD-predictor pathogenicity score accompanied by the predicted impact of the mutation.



Nomenclature c.

Nomenclature p.

Wild type AA

Mutant AA

Number of records

References

Structure

HCD

Conservation

SIFT probability

BLOSUM 62

Biochemical values

ESE modification

Splice site

Pathogenicity

Conclusion

c.154T>C

p.Trp52Arg

Trp

Arg

2

1,35

C2 Domain A

 

1

0.01

-3.00

0.38

-SRp40 [3.69]

No impact

93

Pathogenous

c.463G>A

p.Gly155Arg

Gly

Arg

1

1

 

 

0.5

0.58

-2.00

0.13

 

No impact

82

Pathogenous

c.509C>A

p.Ala170Glu

Ala

Glu

4

1 ,17 ,54

 

 

0.5

0.11

-1.00

0.21

 

No impact

71

Probably pathogenous

c.565C>G

p.Leu189Val

Leu

Val

2

1,42

 

 

0.64

0.69

1.00

0.88

 

Potential donor splice site [81.82]

29

Polymorphism

c.701G>A

p.Gly234Glu

Gly

Glu

2

1,35

C2 Domain B

 

0.71

0.03

-2.00

0.21

 

No impact

86

Pathogenous

c.757C>T

p.Arg253Trp

Arg

Trp

1

1

C2 Domain B

 

0.79

0.02

-3.00

0.38

-SRp55 [4.13]

No impact

93

Pathogenous

c.797T>C

p.Leu266Pro

Leu

Pro

1

1

C2 Domain B

 

0.79

0.02

-3.00

0.67

 

No impact

69

Probably pathogenous

c.851T>C

p.Ile284Thr

Ile

Thr

1

1

C2 Domain B

 

0.79

0.01

-3.00

0.42

-SF2/ASF [2.23] -SRp40 [2.71]

No impact

93

Pathogenous

c.857T>A

p.Val286Glu

Val

Glu

1

50

C2 Domain B

 

0.79

0.01

-2.00

0.21

 

Potential acceptor splice site [82.96]

99

Pathogenous

c.895G>A

p.Gly299Arg

Gly

Arg

3

1,3

C2 Domain B

 

0.86

0.01

-2.00

0.13

-SRp40 [2.7]

Potential acceptor splice site [91.47]

100

Pathogenous

c.895G>C

p.Gly299Arg

Gly

Arg

1

44

C2 Domain B

 

0.86

0.01

-2.00

0.13

-SRp40 [2.7]

Potential acceptor splice site [78.23]

100

Pathogenous

c.895G>T

p.Gly299Trp

Gly

Trp

3

45,54

C2 Domain B

 

0.86

0.00

-2.00

0.25

-SRp40 [2.7]

No impact

94

Pathogenous

c.896G>A

p.Gly299Glu

Gly

Glu

1

1

C2 Domain B

 

0.86

0.02

-2.00

0.21

 

Potential acceptor splice site [81.74]

99

Pathogenous

c.1016C>G

p.Thr339Arg

Thr

Arg

1

54

Ferlin family domain FerI

 

0.71

0.02

-1.00

0.17

 

No impact

81

Pathogenous

c.1020C>A

p.Ser340Arg

Ser

Arg

3

1,54

Ferlin family domain FerI

 

0.71

0.10

-1.00

0.29

 

No impact

71

Probably pathogenous

c.1020C>G

p.Ser340Arg

Ser

Arg

1

56

Ferlin family domain FerI

 

0.71

0.10

-1.00

0.29

 

No impact

71

Probably pathogenous

c.1120G>C

p.Val374Leu

Val

Leu

11

1 ,17 ,35 ,40 ,54 ,58

Ferlin family domain FerI

 

0.79

0.40

1.00

0.88

 

No impact

29

Polymorphism

c.1165G>C

p.Glu389Gln

Glu

Gln

1

24

C2 Domain C

 

0.93

0.08

2.00

0.75

-SF2/ASF [3.32]

Potential acceptor splice site [90.54]

47

Polymorphism

c.1276G>A

p.Gly426Arg

Gly

Arg

1

1

C2 Domain C

 

1

0.03

-2.00

0.13

-SRp55 [3.56]

Potential acceptor splice site [70.48]

100

Pathogenous

c.1277G>T

p.Gly426Val

Gly

Val

3

26

C2 Domain C

 

1

0.01

-3.00

0.50

 

No impact

82

Pathogenous

c.1357C>T

p.Pro453Ser

Pro

Ser

1

35

C2 Domain C

 

1

0.03

-1.00

0.38

 

No impact

75

Pathogenous

c.1368C>G

p.Cys456Trp

Cys

Trp

1

1

C2 Domain C

 

0.93

0.03

-2.00

0.38

-SRp55 [3.17]

No impact

86

Pathogenous

c.1402C>T

p.Arg468Cys

Arg

Cys

1

50

C2 Domain C

 

1

0.21

-3.00

0.25

-SF2/ASF [2.63]

No impact

88

Pathogenous

c.1555G>A

p.Gly519Arg

Gly

Arg

3

35,37

 

 

0.64

0.00

-2.00

0.13

-SC35 [4.13]

Potential acceptor splice site [82.39]

100

Pathogenous

c.1663C>T

p.Arg555Trp

Arg

Trp

7

1,53

 

 

0.71

0.01

-3.00

0.38

 

No impact

88

Pathogenous

c.1852G>A

p.Gly618Arg

Gly

Arg

4

1 ,23 ,43

 

 

0.71

0.00

-2.00

0.13

 

No impact

94

Pathogenous

c.1861G>A

p.Gly621Arg

Gly

Arg

3

17 ,44 ,54

 

 

0.71

0.00

-2.00

0.13

 

Potential acceptor splice site [73.52]

100

Pathogenous

c.1873G>T

p.Asp625Tyr

Asp

Tyr

2

37

 

 

0.71

0.00

-3.00

0.29

 

No impact

94

Pathogenous

c.2192C>G

p.Pro731Arg

Pro

Arg

1

1

Ferlin family domain FerA

 

0.71

0.45

-2.00

0.17

-SRp40 [3.82]

No impact

82

Pathogenous

c.2372C>G

p.Pro791Arg

Pro

Arg

15

3,34

Ferlin family domain FerB

 

0.71

0.00

-2.00

0.17

-SF2/ASF [2.97] -SC35 [2.65]

No impact

94

Pathogenous

c.2641A>C

p.Thr881Pro

Thr

Pro

1

46

Outer DysF domain, N-terminal

 

0.64

0.11

-1.00

0.33

-SRp40 [2.78]

No impact

76

Pathogenous

c.2790G>C

p.Trp930Cys

Trp

Cys

2

1,34

Outer DysF domain, N-terminal

 

0.71

0.00

-2.00

0.38

 

No impact

82

Pathogenous

c.2813T>G

p.Leu938Arg

Leu

Arg

1

35

 

 

0.71

0.01

-2.00

0.25

-SC35 [2.41]

No impact

93

Pathogenous

c.2875C>T

p.Arg959Trp

Arg

Trp

15

16 ,17 ,23 ,33 ,35 ,44 ,54

Inner DysF domain, N-terminal

 

0.64

0.00

-3.00

0.38

-SF2/ASF [3.29]

No impact

94

Pathogenous

c.2902A>T

p.Met968Leu

Met

Leu

1

50

Inner DysF domain, N-terminal

 

0.71

0.50

2.00

0.83

-SC35 [2.39] -SRp55 [3.15]

No impact

35

Polymorphism

c.2974T>C

p.Trp992Arg

Trp

Arg

1

32

Inner DysF domain, N-terminal

 

0.71

0.00

-3.00

0.38

 

No impact

88

Pathogenous

c.2997G>T

p.Trp999Cys

Trp

Cys

20

10 ,13 ,14 ,19 ,31 ,32 ,38 ,50

Inner DysF domain, N-terminal

 

0.71

0.00

-2.00

0.38

-SC35 [4.3]

No impact

88

Pathogenous

c.3031G>C

p.Gly1011Arg

Gly

Arg

1

54

Inner DysF domain, C-terminal

 

0.71

0.03

-2.00

0.13

 

Donor splice site inactivated [81.45->67.64]

100

Pathogenous

c.3041A>G

p.Tyr1014Cys

Tyr

Cys

2

58

Inner DysF domain, C-terminal

 

0.71

0.01

-2.00

0.38

 

No impact

82

Pathogenous

c.3065G>A

p.Arg1022Gln

Arg

Gln

2

1,58

Inner DysF domain, C-terminal

 

0.64

0.62

1.00

0.50

-SF2/ASF [3.16] -SRp55 [3.08]

Potential acceptor splice site [81.31]

65

Probably pathogenous

c.3086C>T

p.Pro1029Leu

Pro

Leu

2

1

Inner DysF domain, C-terminal

 

0.64

0.04

-3.00

0.67

 

No impact

68

Probably pathogenous

c.3113G>A

p.Arg1038Gln

Arg

Gln

5

1 ,16 ,46

Inner DysF domain, C-terminal

 

0.64

0.00

1.00

0.50

 

No impact

59

Probable polymorphism

c.3116G>T

p.Arg1039Leu

Arg

Leu

2

35

Inner DysF domain, C-terminal

 

0.64

0.00

-2.00

0.25

 

No impact

88

Pathogenous

c.3121C>T

p.Arg1041Cys

Arg

Cys

1

23

Inner DysF domain, C-terminal

 

0.64

0.00

-3.00

0.25

 

No impact

94

Pathogenous

c.3130C>A

p.Arg1044Ser

Arg

Ser

1

35

Inner DysF domain, C-terminal

 

0.64

0.00

-1.00

0.29

-SRp55 [3.54]

Potential donor splice site [84.55]

88

Pathogenous

c.3137G>A

p.Arg1046His

Arg

His

4

1,11

Inner DysF domain, C-terminal

 

0.64

0.00

0.00

0.58

-SRp55 [3.17]

No impact

65

Probably pathogenous

c.3683T>C

p.Leu1228Pro

Leu

Pro

1

1

C2 Domain D

 

1

0.00

-3.00

0.67

 

No impact

71

Probably pathogenous

c.3721G>C

p.Gly1241Arg

Gly

Arg

1

40

C2 Domain D

 

1

0.00

-2.00

0.13

-SRp40 [3.15]

No impact

100

Pathogenous

c.3892A>G

p.Ile1298Val

Ile

Val

5

8 ,33 ,58

 

 

0.43

0.70

3.00

0.88

 

No impact

18

Polymorphism

c.3992G>T

p.Arg1331Leu

Arg

Leu

5

46 ,54 ,58

 

 

1

0.52

-2.00

0.25

-SF2/ASF [2.62] -SRp55 [3.89]

No impact

82

Pathogenous

c.4003G>A

p.Glu1335Lys

Glu

Lys

5

16 ,23 ,35

C2 Domain E

 

1

0.00

1.00

0.54

 

No impact

53

Probable polymorphism

c.4004A>G

p.Glu1335Gly

Glu

Gly

1

44

C2 Domain E

 

1

0.00

-2.00

0.21

 

No impact

88

Pathogenous

c.4022T>C

p.Leu1341Pro

Leu

Pro

6

30,54

C2 Domain E

 

1

0.00

-3.00

0.67

 

No impact

71

Probably pathogenous

c.4081T>C

p.Cys1361Arg

Cys

Arg

3

23 ,44 ,57

C2 Domain E

 

1

0.01

-3.00

0.25

 

No impact

93

Pathogenous

c.4253G>A

p.Gly1418Asp

Gly

Asp

5

46,47

C2 Domain E

 

1

0.00

-1.00

0.29

 

No impact

82

Pathogenous

c.4514A>G

p.Tyr1505Cys

Tyr

Cys

1

23

 

 

1

0.00

-2.00

0.38

 

Potential donor splice site [78.55]

82

Pathogenous

c.4577A>C

p.Lys1526Thr

Lys

Thr

2

1,58

 

 

1

0.04

-1.00

0.21

 

No impact

80

Pathogenous

c.4585C>T

p.Arg1529Trp

Arg

Trp

1

44

 

 

0.93

0.00

-3.00

0.38

 

No impact

88

Pathogenous

c.4628G>A

p.Gly1543Asp

Gly

Asp

1

1

 

 

1

0.00

-1.00

0.29

-SRp40 [2.88]

No impact

88

Pathogenous

c.4731G>A

p.Glu1577Glu

Glu

Glu

1

43

 

 

1

1.00

5.00

1.00

 

No impact

18

Polymorphism

c.4883G>T

p.Gly1628Val

Gly

Val

1

54

C2 Domain F

 

1

0.00

-3.00

0.50

 

No impact

82

Pathogenous

c.4943A>G

p.Tyr1648Cys

Tyr

Cys

1

50

C2 Domain F

 

1

0.00

-2.00

0.38

 

No impact

82

Pathogenous

c.4969G>A

p.Glu1657Lys

Glu

Lys

1

35

C2 Domain F

Calcium binding 1657

1

0.04

1.00

0.54

 

No impact

68

Probably pathogenous

c.4985C>G

p.Thr1662Arg

Thr

Arg

2

23

C2 Domain F

 

1

0.00

-1.00

0.17

 

No impact

82

Pathogenous

c.5033G>A

p.Cys1678Tyr

Cys

Tyr

1

44

 

 

1

0.00

-2.00

0.38

-SF2/ASF [2.16]

No impact

88

Pathogenous

c.5033G>C

p.Cys1678Ser

Cys

Ser

1

17

 

 

1

0.00

-1.00

0.63

-SC35 [2.95] -SRp55 [3.41]

No impact

71

Probably pathogenous

c.5036G>A

p.Gly1679Glu

Gly

Glu

1

13

 

 

1

0.00

-2.00

0.21

-SF2/ASF [2.16] -SRp55 [3.41]

No impact

94

Pathogenous

c.5077C>T

p.Arg1693Trp

Arg

Trp

2

17

 

 

1

0.00

-3.00

0.38

 

Potential donor splice site [72.91]

88

Pathogenous

c.5078G>A

p.Arg1693Gln

Arg

Gln

1

1

 

 

1

0.00

1.00

0.50

 

Potential acceptor splice site [70.39]

71

Probably pathogenous

c.5194G>C

p.Glu1732Gln

Glu

Gln

1

50

 

 

1

0.08

2.00

0.75

 

Potential acceptor splice site [79.87]

41

Polymorphism

c.5201A>G

p.Glu1734Gly

Glu

Gly

1

37

 

 

1

0.02

-2.00

0.21

-SF2/ASF [3.53]

Acceptor splice site inactivated [71.41->55.48]

100

Pathogenous

c.5243A>T

p.Glu1748Val

Glu

Val

1

1

 

 

1

0.01

-2.00

0.21

 

Potential donor splice site [85.82]

88

Pathogenous

c.5302C>T

p.Arg1768Trp

Arg

Trp

6

1 ,34 ,35 ,49

 

 

1

0.00

-3.00

0.38

-SF2/ASF [3.16] -SRp40 [3.1] -SRp40 [2.93] -SRp55 [3.89]

No impact

94

Pathogenous

c.5429G>A

p.Arg1810Lys

Arg

Lys

7

59

 

 

1

1.00

2.00

0.96

-SF2/ASF [3.09] -SRp40 [3.68]

Donor splice site inactivated [83.45->70.18]

76

Pathogenous

c.5444G>T

p.Cys1815Phe

Cys

Phe

1

58

C2 domain G

 

1

0.04

-2.00

0.46

 

No impact

80

Pathogenous

c.5509G>A

p.Asp1837Asn

Asp

Asn

10

1 ,17 ,21 ,35 ,58

C2 domain G

 

1

0.00

1.00

0.75

 

No impact

47

Polymorphism

c.5509G>T

p.Asp1837Tyr

Asp

Tyr

1

10

C2 domain G

 

1

0.00

-3.00

0.29

 

No impact

94

Pathogenous

c.5525G>A

p.Gly1842Asp

Gly

Asp

1

15

C2 domain G

 

1

0.00

-1.00

0.29

-SRp40 [3.94]

Donor splice site inactivated [75.82->62.55]

100

Pathogenous

c.5570A>G

p.His1857Arg

His

Arg

1

8

C2 domain G

 

1

0.00

0.00

0.58

 

Potential donor splice site [72]

59

Probable polymorphism

c.5612T>C

p.Phe1871Ser

Phe

Ser

1

40

C2 domain G

 

1

0.00

-2.00

0.33

 

No impact

88

Pathogenous

c.5626G>A

p.Asp1876Asn

Asp

Asn

1

40

C2 domain G

 

1

0.13

1.00

0.75

-SRp40 [3.48] -SC35 [2.48]

Potential acceptor splice site [78.82]

53

Probable polymorphism

c.5765T>C

p.Leu1922Pro

Leu

Pro

1

15

C2 domain G

 

1

0.00

-3.00

0.67

-SC35 [2.48] -SRp55 [2.71]

Potential acceptor splice site [72.12]

88

Pathogenous

c.5824T>G

p.Cys1942Gly

Cys

Gly

1

17

 

 

1

0.06

-3.00

0.46

 

No impact

76

Pathogenous

c.5908C>T

p.Pro1970Ser

Pro

Ser

1

1

 

 

0.93

0.00

-1.00

0.38

 

No impact

76

Pathogenous

c.5999G>A

p.Arg2000Gln

Arg

Gln

2

11,35

 

 

1

0.08

1.00

0.50

 

No impact

47

Polymorphism

c.6124C>T

p.Arg2042Cys

Arg

Cys

11

1 ,8 ,17 ,33 ,34 ,50 ,51

 

 

0.86

0.02

-3.00

0.25

 

No impact

93

Pathogenous

c.6203C>T

p.Pro2068Leu

Pro

Leu

1

26

 

 

0.79

0.00

-3.00

0.67

 

No impact

71

Probably pathogenous

c.6217A>G

p.Met2073Val

Met

Val

1

36

 

 

0.64

0.19

1.00

0.71

unable

No impact

41

Polymorphism