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Results 1 - 8 of 8
EC Number Protein Variants Commentary Reference
Display the word mapDisplay the reaction diagram Show all sequences 1.14.14.29A316AA the mutation is associated with the SPG5A subtype of hereditary spastic paraplegia 726643
Display the word mapDisplay the reaction diagram Show all sequences 1.14.14.29G147D the mutation is associated with the SPG5A subtype of hereditary spastic paraplegia 726643
Display the word mapDisplay the reaction diagram Show all sequences 1.14.14.29G443A c.1328G-C, naturally occuring mutation of CYP7B1 involved in spastic paraplegia type 5 711775
Display the word mapDisplay the reaction diagram Show all sequences 1.14.14.29G87V c.260G-T, naturally occuring mutation of CYP7B1 involved in spastic paraplegia type 5 711775
Display the word mapDisplay the reaction diagram Show all sequences 1.14.14.29H285L c.854A-T, naturally occuring mutation of CYP7B1 involved in spastic paraplegia type 5 711775
Display the word mapDisplay the reaction diagram Show all sequences 1.14.14.29R112X the mutation is associated with the SPG5A subtype of hereditary spastic paraplegia 726643
Display the word mapDisplay the reaction diagram Show all sequences 1.14.14.29R324H c.971G-A, naturally occuring mutation of CYP7B1 involved in spastic paraplegia type 5 711775
Display the word mapDisplay the reaction diagram Show all sequences 1.14.14.29R486C the mutation is associated with the SPG5A subtype of hereditary spastic paraplegia 726643
Results 1 - 8 of 8