Co-ordinates refer to the pNB36C cDNA.
Nucleotide substitution: C1799T.
Amino acid replacement: Q411term.
C23748890T
C1799T
Q408term | Hmgcr-PA
Q411term
The site of this mutation is in question. It was reported as Q411@ relative to the pNB36C cDNA sequence. There is no Gln residue at position 411 in the CDS encoded by the reference sequence and the mutation was annotated at Q408. The mutated site may be 9 bases downstream at codon 411.
Strong allele.