Table 7. [APRT Deficiency: Notable APRT Pathogenic Variants]. - GeneReviews®

Reference Sequences	DNA Nucleotide Change (Alias ¹)	Predicted Protein Change (Alias ¹)	Comment [Reference]
NM_000485.2 NP_000476.1	c.294G>A (1450G>A)	p.Trp98Ter	The most common pathogenic variants in affected Japanese persons; p.Met136Thr [Sahota et al 2001] has decreased affinity for the co-substrate PRPP.
NM_000485.2	c.258_261dupCCGA (1415_1418insCCGA)
NM_000485.2 NP_000476.1	c.407T>C (2066T>C)	p.Met136Thr
c.194A>T (1350A>T)	p.Asp65Val	Common pathogenic variant in affected persons from Iceland, Britain, & Spain
c.400+2dupT (400+2insT) (IVS4+2insT)	p.Ala108GlufsTer3 (Arg87PfsTer23)	Common pathogenic variant in European populations
c.448G>T (2107G>T)	p.Val150Phe	Identified compound heterozygous w/c.400+2dupT in a person of northern European heritage who had considerable residual enzyme activity in cell extracts [Deng et al 2001]
NM_000485.2	del254 bp, insTTCCCGTA		Reported in 2 families: 1 from Austria and 1 from Italy [Menardi et al 1997, Di Pietro et al 2007]

Reference Sequences

DNA Nucleotide Change
(Alias ¹)

Predicted Protein Change
(Alias ¹)

Comment [Reference]

c.294G>A
(1450G>A)

p.Trp98Ter

The most common pathogenic variants in affected Japanese persons; p.Met136Thr [Sahota et al 2001] has decreased affinity for the co-substrate PRPP.

NM_000485.2

c.258_261dupCCGA
(1415_1418insCCGA)

NM_000485.2
NP_000476.1

c.407T>C
(2066T>C)

p.Met136Thr

c.194A>T
(1350A>T)

p.Asp65Val

Common pathogenic variant in affected persons from Iceland, Britain, & Spain

c.400+2dupT
(400+2insT)
(IVS4+2insT)

p.Ala108GlufsTer3
(Arg87PfsTer23)

Common pathogenic variant in European populations

c.448G>T
(2107G>T)

p.Val150Phe

Identified compound heterozygous w/c.400+2dupT in a person of northern European heritage who had considerable residual enzyme activity in cell extracts [Deng et al 2001]

NM_000485.2

del254 bp, insTTCCCGTA

Reported in 2 families: 1 from Austria and 1 from Italy [Menardi et al 1997, Di Pietro et al 2007]

From: Adenine Phosphoribosyltransferase Deficiency

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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