CLN3


Battenin

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

Diseases associated to this gene:
CLN3

Finnish Mutations

Mutation Consequence Amino acid change Reference sequence Articles
IVS7+1G>C aberrant splicing, truncated protein 9151312, 7553855
Lerner-2 9151312, 7553855
c.1001G>A R334H 9311735
c.883G>A E295K 9490299, 9311735
delEX10-13 9932957


Foreign Mutations

Mutation Consequence Amino acid change Reference sequence Population Articles
IVS14-1G>T aberrant splicing, truncated protein American 9311735
IVS6-13G>C aberrant splicing, truncated protein American 9311735
Lerner-1 European, American 7553855
Lerner-3 Moroccan 7887420, 7553855
c.1000C>T R334C Dutch 9311735
c.1001G>A R334H German, American, British 9311735
c.1054C>T Q352X American, Dutch 9311735
c.1272delG S423fs British 9311735
c.302T>C L101P Dutch 9311735
c.374-375insCC P126fs British 9311735
c.424delG L141fs American, Dutch 9311735
c.482C>G S161X Swedish 9311735
c.485C>G S162X Danish 9311735
c.49G>T E17X Unknown 16087292
c.509T>C L170P British 9311735
c.558delAG S185fs Italian 9311735
c.586-587insG G195fs British 9311735
c.597C>A Y199X Lebanese 19489875
c.631C>T Q211X Italian 9311735
c.944-945insA S314fs Icelandic, American, Italian 9311735
c.979C>T Q327X Danish 9311735
c.988G>T V330F Norwegian 9311735