Ednrb^s-Btlr

The Ednrb mutation is a G to A transition at base pair 103820013 (v38) on Chromosome 14, or base pair 24,161 in the GenBank genomic region NC_000080 encoding Ednrb. Themutation corresponds to residue 1,337 in the mRNA sequence NM_007904.4(ENSMUST00000172237) within exon 6 of 7 total exons or residue 1,523 inthe mRNA sequence NM_001136061.2 (ENSMUST00000022718) within exon 7 of 8 total exons. The mutation results in a glycine (G) to aspartic acid (D) substitution at amino acid 371 in both endothelin receptor type B (ETBR) isoforms. (J:202015)