Table 7.

Notable MAPT Pathogenic Variants

Reference SequencesDNA Nucleotide
Change		Predicted
Protein Change		Comment [Reference]
NM_005910​.6
NP_005901​.2 		c.837T>Gp.Asn279LysSee Genotype-Phenotype Correlations.
c.851T>Gp.Leu284Arg
c.887_889delATAp.Asn296del
c.902C>Tp.Pro301Leu
c.908G>Tp.Gly303Val
c.944T>Gp.Leu315ArgSee Penetrance.
c.950A>Tp.Lys317MetSee Genotype-Phenotype Correlations.
c.1009G>Ap.Val337Met
c.1052A>Gp.Gln351Arg
c.1087G>Ap.Val363IleSee Penetrance.
c.1165G>Cp.Gly389Arg
c.1216C>Tp.Arg406TrpSee Genotype-Phenotype Correlations.
NM_005910​.6 c.853A>C 1--
c.915T>C 1--
c.915+16C>T--

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.

Nucleotide change is predicted to disrupt splicing [Tubeuf et al 2020].

From: MAPT-Related Frontotemporal Dementia

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