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

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

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
  1. *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]).