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 |