TTN


Titin

Ensembl gene entry
Ensembl gene location
Omim gene
Genetics Home Reference entry

Diseases associated to this gene:
TMD

Finnish Mutations

Mutation Consequence Amino acid change Reference sequence Articles
g.293268_293280delinsTGAAAGAAAAA EVTW>VKEK AJ277892 12145747


Foreign Mutations

Mutation Consequence Amino acid change Reference sequence Population Articles
g.292998delT S33315QfsX10 AJ277892.2 French 18948003
g.293326A>C H33378P AJ277892 Italian 19911250
g.293329T>A I33379N Belgian 12891679
g.293356T>C L293357P AJ277892 French 12145747
g.293378delA K33395NfsX9 AJ277892.2 Spanish 18948003
g.293379C>T Q33396X AJ277892.2 French 18948003