Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes

Table 2 Instances where a substituting amino acid in a human disease mutation is identical to the wild-type sequence of the rat genome

Ensembl reference	LocusLink identifier	Codon start	Nucleotide change	Amino acid change	Disease
ENSP00000318731	355	225	ACA-AAA	Thr-Lys	Autoimmune lymphoproliferative syndrome
ENSP00000260947	580	295	AAT-AGT	Asn-Ser	Breast cancer
ENSP00000256993	4607	59	cACA-GCA	Thr-Ala*^§	Cardiomyopathy, hypertrophic
ENSP00000253496	2161	398	CGG-CAG	Arg-Gln	Factor XII deficiency
ENSP00000326824	114548	198	cGTG-ATG	Val-Met*	Familial cold autoinflammatory syndrome
ENSP00000324427	4653	445	GCA-GTA	Ala-Val	Glaucoma 1, open angle
ENSP00000322421	3039	68	AACg-AAA	Asn-Lys	Hemoglobin variant
ENSP00000298599	5979	251	cGAG-AAG	Glu-Lys*^§	Hirschsprung disease
ENSP00000298599	5979	654	tGCC-ACC	Ala-Thr	Hirschsprung disease
ENSP00000291550	875	354	gGTG-ATG	Val-Met*	Homocystinuria
ENSP00000250087	23746	302	CGC-CTC	Arg-Leu*	Leber congenital amaurosis IV
ENSP00000273783	8893	113	CGC-CAC	Arg-His*	Leukoencephalopathy with vanishing white matter
ENSP00000294717	24	1898	CGC-CAC	Arg-His*	Macular degeneration, age related
ENSP00000310389	6622	53	gGCA-ACA	Ala-Thr*^§	Parkinson disease
ENSP00000233139	6716	227	CGA-CAA	Arg-Gln	Steroid-5 alpha-reductase deficiency

*Cases where the mutation is also identical to the wild-type mouse sequence. ^§These three cases were previously reported as being present in wild-type mouse sequences [7]).

ISSN: 1474-760X