ABCA4 DataBase

Seq No
Seq No
Phenotype
MUt ID
Struct Loc
Severity
Entropy
DUET
Ref
 
1 MD Met1Thr N-ter  
0
0
  HGMD View
1 STGD Met1Val N-ter  
0
0
  8 View
11 MYSTGD1 Leu11Pro N-ter  
0.035
0.035
    View
11 FFM Leu11Pro N-ter  
0.035
0.035
  11 uniprot View
15 STGD Trp15Ter N-ter  
0.035
0.035
  23 View
18 STGD Arg18Trp N-ter 4
0.035
0.035
-0.46 15.23,19 View
24 STGD Arg24Cys    
0.02
0.02
-1.686   View
24 CORD3 Arg24Cys TM1  
0.02
0.02
-1.686 19 View
24 STGD Arg24His TM1  
0.02
0.02
-1.905 20.31 View
40 STGD Ala40Val TM1 2
0.2
0.2
0 a View
41 MYSTGD2 Trp41ter TM1  
0
0
    View
41 STGD Trp41ter TM1  
0
0
  HGMD View
54 STGD Cys54Gly ECD1  
0
0
-2.116 HGMD View
54 STGD Cys54Phe ECD1  
0
0
-1.215 HGMD View
54 STGD Cys54Tyr ECD1 2
0
0
-1.365 8,16,20,25,31,43 View
55 RD His55Pro ECD1  
 
 
0.799 HGMD View
58 STGD Asn58Lys ECD1 1
0.54
0.54
0.604 8 View
60 STGD Ala60Glu ECD1  
0
0
-0.293 17 uniprot View
60 MYSTGD4 Ala60Thr ECD1  
 
 
-0.343 17 uniprot View
60 STGD Ala60Thr ECD1  
0
0
-0.343 HGMD View
Page 
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