Table 7. [Notable MUTYH Pathogenic Variants]. - GeneReviews®

Reference Sequences	DNA Nucleotide Change	Predicted Protein Change (Alias ¹)	Comment [Reference]
NM_001128425.1 NP_001121897.1	c.536A>G	p.Tyr179Cys (p.Tyr165Cys)	Common pathogenic variants carried by ~1%-2% of the general population that account for ≥90% of all MUTYH pathogenic variants in northern European populations [Al-Tassan et al 2002, Cleary et al 2009]; ≤70% of persons w/MAP harbor at least 1 of these variants [Nielsen et al 2009b].
c.1187G>A	p.Gly396Asp (p.Gly382Asp)
c.312C>A	p.Tyr104Ter	Common in Pakistani population [Dolwani et al 2007, Khawaja & Payne 2007, Prior & Bridgeman 2010]
c.857G>A	p.Gly286Glu	Found in Japanese & Korean populations [Kim et al 2007, Yanaru-Fujisawa et al 2008]
c.1147delC		Common in northern European populations [Nielsen et al 2009b]
c.1214C>T	p.Pro405Leu	Common in the Dutch population [Nielsen et al 2005]
c.1227_1228dup		Common in the Spanish, Portuguese, & Tunisian populations [Gómez-Fernández et al 2009, Abdelmaksoud-Dammak et al 2012]
c.1437_1439del	p.Glu480del	Common in the Italian population [Gismondi et al 2004]
c.1438G>T	p.Glu480Ter	Founder variant in the British Indian population [Dolwani et al 2007]
Del exons 4-16		Common in Spanish, Brazilian, & French populations [Rouleau et al 2011, Torrezan et al 2011, Castillejo et al 2014]

Reference
Sequences

DNA Nucleotide
Change

Predicted Protein Change
(Alias ¹)

Comment [Reference]

c.536A>G

p.Tyr179Cys
(p.Tyr165Cys)

Common pathogenic variants carried by ~1%-2% of the general population that account for ≥90% of all MUTYH pathogenic variants in northern European populations [Al-Tassan et al 2002, Cleary et al 2009]; ≤70% of persons w/MAP harbor at least 1 of these variants [Nielsen et al 2009b].

c.1187G>A

p.Gly396Asp (p.Gly382Asp)

c.312C>A

p.Tyr104Ter

Common in Pakistani population [Dolwani et al 2007, Khawaja & Payne 2007, Prior & Bridgeman 2010]

c.857G>A

p.Gly286Glu

Found in Japanese & Korean populations [Kim et al 2007, Yanaru-Fujisawa et al 2008]

c.1147delC

Common in northern European populations [Nielsen et al 2009b]

c.1214C>T

p.Pro405Leu

Common in the Dutch population [Nielsen et al 2005]

c.1227_1228dup

Common in the Spanish, Portuguese, & Tunisian populations [Gómez-Fernández et al 2009, Abdelmaksoud-Dammak et al 2012]

c.1437_1439del

p.Glu480del

Common in the Italian population [Gismondi et al 2004]

c.1438G>T

p.Glu480Ter

Founder variant in the British Indian population [Dolwani et al 2007]

Del exons 4-16

Common in Spanish, Brazilian, & French populations [Rouleau et al 2011, Torrezan et al 2011, Castillejo et al 2014]

From: MUTYH Polyposis

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

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