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