GENE LOCUS or SYNDROME NUCLEOTIDE CHANGE AMINO ACID CHANGE ETHNICITY (Number of families) REFERENCES
12S rRNA Associated with ototoxicity 961delTinsC   Chinese (1); Italian (1) Bacino 1995; Casano 1999
  Associated with ototoxicity 1095T>C   N/A (1) Tessa 2001
  Associated with ototoxicity 1555A>G   Arab-Israeli (1),Chinese (3); Japanese (2), N/A (4); Zairean (12); Japanese (5); Mongolian (2); Spanish (2); Greek (1), English/Irish (1), Italian (1), Mexican (1), Puerto Rican (1), Chinese/Japanese/Caucasian (1), Vietnamese (1); S. African (1); Korean (1) Spanish (19); Italian (2); Spanish/Cuban (8); Japanese (1) Spanish (23); Filipino American (1); Japanese (4) Prezant 1993; Hutchin 1993a; Matthijs 1996; Usami 1997; Pandya 1997; El-Schahawi 1997; Fischel-Ghodsian 1997; Gardner 1997; Chang 1997 Estivil 1998; Casano 1998; Sarduy 1998; Tono 1998 Castilo 2000; Nye 2000*; Oshima 2001
      *Presents with myelocystocele-cloacal exstrophy  
             
tRNA leu(UUR) Associated with diabetes mellitus A3243G   ??; ??; ??; ??; ??; Japanese (1); ??; N/A (1); German (1); Japanese (1); Japanese (1); N/A (1); N/A (3); Van den Ouweland 1992; Remes 1993; Van den Ouweland 1994; Gold 1994; Oshima 1996; Sawada 1997; Olsson 1998; Deschauer 2000; Schleiffer 2000; Yamagata 2000; Higashikata 2001; Hutchin 2001b; Choo-Kang 2002; Majamaa-Voltti 2002*
    *Associated with cardiac abnormalities  
  Associated with Kearns-Sayre G3249A   N/A (1) Seneca 2001
  Associated with diabetes mellitus T3271C     Sakuta 1993; Tarnopolski 1998
             
tRNA ile Associated with cardiomyopathy A4267G   N/A (1) Taylor 2002
      A4269G   ??; ?? Tanike 1992; Kaido 1995
             
tRNA trp(UCN) Associated with cutaneous hypopigmentation and albinoid appearance 5568A>G   Caucasian Hutchin MBHD 2001
             
COX1 Associated with COX1 deficiency 6480G>A I193V N/A (1) Jaksch 1998a
             
tRNA ser(UCN) Associated with palmoplantar keratoderma 7445A>G   Scottish (1); New Zealand (1); Japanese (1); French (1); UK (1); N/A (1); American Reid 1994; Fischel-Ghodsian 1995; Sevoir 1998; Martin 2000; Hutchin 2000; Hutchin 2001a Pandya MBHD 2001
      7444G>A   American, Mongolian Pandya MBHD 2001
        Mongolian affected also had 1555A>G  
        One Mongolian also had additional 1462G>A  
      7445A>C   Mongolian Pandya MBHD 2001
      7443A>G   Mongolian Pandya MBHD 2001
  Associated with neurological dysfunction 7472insC   Italian(1); N/A (2); N/A (3); Dutch (1); Dutch (1); N/A (1) Tiranti 1995; Jaksch 1998a; Jaksch 1998b; Ensink 1996; Verhoeven 1999; Hutchin 2001b
  Associated with progressive myopathy, ragged red fibers, lactic acidosis 7497G>A   N/A (2) Jaksch 1998b
      7510T>C   White (1) Hutchin 2000
      7511T>C   African American (1); Japanese(1) Sue 1999; Ishikawa 2002
  Associated with COX1 deficiency 7512T>C   N/A (2); N/A (2) Jaksch 1998a; Jaksch 1998b
             
tRNA lys Associated with diabetes mellitus A8296G   ?? Kameoka 1998
  Associated with MERRF A8344G   ??; ?? Silvestri 1993; Gold 1994
  Associated with MERRF/MELAS T8356C   ??; ?? Silvestri 1992; Zeviani 1993
  Associated with cardiomyopathy C8363A   ?? Santorelli 1996
             
tRNA ser(AGY) Associated with retinitis pigmentosa 12258C>A   Irish (1) Mansergh 1999