Table 1

ABCA4 sequence variants identified in Spanish control population

Mutant alleles
Nucleotide changeAmino acid changeNumber of casesNumber of allelesFrequency (%)Homozygous individuals
Mutations*c.661G>Ap.Gly221Arg110.64None
c.1140T>Ap.Asn380Lys110.64None
c.2588G>Cp.Gly863Ala110.64None
c.3113C>Tp.Ala1038Val110.64None
c.3899G>Ap.Arg1300Gln110.64None
c.5882G>Ap.Gly1961Glu110.64None
c.5908C>Tp.Leu1970Phe110.64None
c.6148G>Cp.Val2050Leu110.64None
c.6529G>Ap.Asp2177Asn221.28None
    Total10
Polymorphisms†c.466A>Gp.Ile156Val553.2None
c.635G>Ap.Arg212His563.841
c.1268A>Gp.His423Arg434830.75
c.1269C>Tp.His423His221.28None
IVS10+5delG3436232
c.2828G>Ap.Arg943Gln110.64None
c.4203C>Ap.Pro1401Pro331.9None
IVS33+48C>T59754816
c.5603A>Tp.Asn1868Ile442.5None
c.5682G>Cp.Leu1894Leu293522.46
c.5814A>Gp.Leu1938Leu273321.16
c.5843 C>Tp.Pro1948Leu9106.41
c.5844A>Gp.Pro1948Pro273220.55
c.6069C>Tp.Ile2023Ile11127.71
c.6249C>Tp.Ile2083Ile12148.92
c.6285T>Cp.Asp2095Asp242616.62
c.6764G>Tp.Ser2255Ile12138.31
  • *A total of 15 mutant alleles were detected.

  • †Polymorphisms identified in control individuals: eight out of 16 were synonymous codon variants. In addition, the decision criteria for being non-pathogenic changes were supported by the existence of unaffected individuals harbouring homozygous variants.