OAT

Ornithine aminotransferase
Diseases associated with this gene: GACR
LOVD Gene: OAT
NCBI Gene: OAT
Gene Home Reference: OAT
Ensembl gene: ENSG00000065154
Ensembl location: ENSG00000065154

OMIM gene: 613349
Curator: Eva Trevisson and Mara Doimo
Download Finnish OAT variants in tab-separated format.

 Finnish Variants

Filtered from source LSDB
Path. Protein Exon DNA change Var_pub_as RNA change DNA_g DB-ID Variant remarks Origin Segregation Detection/Template Detection/Technique Frequency RE-site Reference dbSNP Disease Phenotype additional Remarks Reference Inheritance Consanguinity Families/Patients # Reported Geographic origin Ethnic origin Gender Age_onset Phenotype_onset
+/+? p.(Asn89Lys) 3 c.267C>A 267C>A r.(267c>a) g.126097467G>T OAT_00034 Finnish mutation unknown yes DNA SEQ - - Brody et al. 1992 - Gyrate atrophy of choroid and retina - - Brody et al. 1992, Finland:Helsinki unknown - 1/1 1 Finland Finnish - - -
+/? p.Arg180Thr 5 c.539G>C    + c.539G>C - r.539g>c g.126094114C>G OAT_00017 Mutant OAT protein was inactive. germline (inherited) yes DNA EMC, SEQ, Southern 0/19 FIN CON RsaI+ Mitchell et al. 1989 - Gyrate atrophy of choroid and retina - Mitchell 1989:families Fin 6 and Fin 14. Mitchell et al. 1989, Finland:Helsinki familial, autosomal recessive - 2/2 1 Finland Finland - - -
+/? p.(Leu402Pro) 10 c.1205T>C    + c.1205T>C - r.(?) - OAT_00016 - unknown - DNA SEQ - - Brody 1992 - gyrate atrophy of choroid and retina - - Italy:Padova familial, autosomal recessive - - 1 Finland Finnish - - -
+/? p.Leu402Pro 10 c.1205T>C    + c.1205T>C - r.1205u>c - OAT_00016 14 Finnish families (hom). Finnish major mutation. Mutant OAT protein was inactive. germline (inherited) yes DNA EMC 0/19 FIN CON Ava II+ Mitchell et al. 1989 - Gyrate atrophy of choroid and retina - 14 Finnish families Mitchell et al. 1989, Finland:Helsinki familial, autosomal recessive - 14/14 1 Finland Finnish - - -
+/+? p.(Leu402Pro) 10 c.1205T>C    + c.1205T>C 1205T>C r.(1205u>c) g.126086626A>G OAT_00016 Finnish major mutation. 14 Finnish families (hom). Mutation leads to production of inactive OAT protein. unknown yes DNA SEQ - - Mitchell et al. 1989, Brody et al. 1992 dbSNP-rs[rs121965043] Gyrate atrophy of choroid and retina - - Brody et al. 1992, Finland:Helsinki unknown - 1/1 1 Finland Finnish - - -


 All Variants

Source LSDB  OAT - All Variants





FinDis has received funding from the Academy of Finland, Center of Excellence in Disease Genetics
and the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement number 200754 - the GEN2PHEN project.