Table 3.

UROS Pathogenic Allelic Variants Discussed in This GeneReview

DNA Nucleotide Change
(Alias 1)
Protein Amino Acid ChangeReference Sequences
c.139T>Cp.Ser47ProNM_000375​.2
NP_000366​.1
c.197C>Tp.Ala66Val
c.217T>Cp.Cys73Arg
c.244G>Tp.Val82Phe
c.311C>Tp.Ala104Val
c.673G>Ap.Gly225Ser
Mutations in the erythroid-specific promoter region 2
c.-3287T>C
(-70T>C)
NAAH010036​.2 2
c.-3281G>A
(-76G>A)
c.-3271T>C
(-86C>A)
c.-3267C>A
(-90C>A)

Note on variant classification: Variants listed in the table have been provided by the author(s). GeneReviews staff have not independently verified the classification of variants.

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

NA, not applicable.

1. Variant designation that does not conform to current naming conventions

2. Includes genomic sequence of noncoding exon 1 and intron 1; the erythroid-specific promoter region is in intron 1 [Solis et al 2001, Desnick & Astrin 2002].

From: Congenital Erythropoietic Porphyria

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