An intronic splice site mutation, between exons 8 and 9, encoding the PAS-2 domain, results in a truncated 460 residue protein (as oppose to 917 residues).
Nucleotide substitution: G?A.
G26079366A
An intronic splice donor site mutation, between exons 8 and 9, encoding the PAS-2 domain, results in a truncated protein of 469aa including 9aa encoded by intronic sequences.