Gene Symbol: TAT
OMIM: 613018Chromosome location: 16q22.2
Related informations:  
NCBI Gene  
Genome Browser  
UniProt  
GeneCards  
Kyoto Encyclopedia  
BioGPS  
HGNC  
HPRD  
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 |
---|
Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
---|
Tunisia | NA | NA | 2 families / 3 families | NA | Charfeddine 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