back to Main TAU Mutations Directory

Polymorphism Identified in the MAPT Gene in Individuals with Fronto-Temporal Dementia

Cezary Zekanowski, PhD, Laboratory of Neurodegeneration
International Institute of Molecular and Cell Biology in Warsaw
Warszawa, Poland. email: czarekz@iimcb.gov.pl

Exon/Intron	Polymorphisms
E1	5' UTR-13 a--> g
I1	nt-93 t --> c
I2	nt+18 c --> t
I3	nt+9 a --> g
I3	nt-103 t --> a (very rare on H1)
I3	nt-94a -->t (very rare on H1)
E4a	n+232 C --> T (CCG/CTG; P/L)
E4a	n+480 G --> A (GAC/AAC; R/N)
E4a	n+482 C --> T (GAC/GAT; N/N)
E4a	n+493 T --> C (GTA/GCA; V/A)
E4a	n316 A --> G (CAA/CGA, Q/Q)
I4a	nt-72 t --> c
E6	n+139 C --> T (CAC/TAC H/Y) (very common)
E6	n+157 T --> C (ACT/ACC S/P)
I6	nt+67 a --> g
I6	nt+105 t --> c
E7	P176P (G --> A)
E8	n+5 T --> C (ACT/ACC, T/T)
I8	nt-26 g --> a
E9	A227A (GCA/GCG)
E9	N255N (AAT/AAC)
E9	P270P (CCG/CCA)
I9	nt-47 c --> a (very rare on H1)
I9	D238bp
I11	nt+34 g --> a
I11	nt+90 g --> a
I11	nt+296 c --> t
I13	nt+34 t --> c

Legend: Bold typed - polymorphisms inherited as a part of extended haplotype 2.
In case of exons skipped in the brain mRNA (exon 4a, 6, 8) locations of polymorphic sites are counted from the first nucleotide of the exon.

Other Tau-related sites:

The Tau Proteins site maintained by VCDN group of INSERM of France lists the phosphorylation sites on tau proteins and a list of mutations of the tau gene.