Gene: tyrosine aminotransferase; TAT


Gene Symbol: TAT
OMIM: 613018
Chromosome location: 16q22.2

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Tyrosinemia, type II (Richner-Hanhart Syndrome) || c.818T>C (914T>C)

Phenotype:    Tyrosinemia, type II (Richner-Hanhart Syndrome)
Dna Change:    c.818T>C (914T>C)
Protein Change:    p.Leu273Pro
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 8
Transcript:    NM_000353.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TunisiaNANA2 families / 3 familiesNACharfeddine C et al., 2006Charfeddine C, Monastiri K, Mokni M, Laadjimi A, Kaabachi N, Perin O, Nilges M, Kassar S, Keirallah M, Guediche MN, Kamoun MR, Tebib N, Ben Dridi MF, Boubaker S, Ben Osman A, Abdelhak S, . Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations.. Mol. Genet. Metab.. 2006; 88(2):184-91

References

Charfeddine C, Monastiri K, Mokni M, Laadjimi A, Kaabachi N, Perin O, Nilges M, Kassar S, Keirallah M, Guediche MN, Kamoun MR, Tebib N, Ben Dridi MF, Boubaker S, Ben Osman A, Abdelhak S, Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations.Mol. Genet. Metab.. 2006; 88(2):184-91