Table 3.

Selected SUOX Pathogenic Variants

DNA Nucleotide ChangePredicted Protein ChangeReference Sequence
See footnote 1.p.Ser427Tyr NM_000456​.2
c.520delG 2Premature termination
c.650G>Ap.Arg217Gln
c.794C>Ap.Ala265Asp
c.1400C>Gp.Tyr400Ter
c.1589G>Ap.Gly530Asp

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

The original publication does not use current naming conventions and the c. nomenclature could not be determined [Edwards et al 1999].

2.

The original publication does not use current naming conventions and names this variant c.1244delG [Seidahmed et al 2005].

From: Isolated Sulfite Oxidase Deficiency

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