chr17:46010389:C>T Detail (hg38) (MAPT)

Information

Genome

Assembly Position
hg19 chr17:44,087,755-44,087,755 View the variant detail on this assembly version.
hg38 chr17:46,010,389-46,010,389

HGVS

Type Transcript Protein
RefSeq NM_016835.4:c.2078C>T NP_058519.3:p.Pro693Leu
NM_001123066.3:c.1801-3854C>T
NM_005910.5:c.902C>T NP_005901.2:p.Pro301Leu
Summary

MGeND

Clinical significance Pathogenic
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 157140 OMIM
HGNC 6893 HGNC
Ensembl ENSG00000186868 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic other germline MGS000075
(TMGS000147) 		Takeshi Ikeuchi
 Niigata University
JFADdb
Pathogenic Semantic dementia unknown MGS000076
(TMGS000148) 		Kenjiro Kosaki
 Keio University
JFADdb
Pathogenic Familial semantic dementia germline MGS000001
(TMGS000178) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2024-01-09 criteria provided, multiple submitters, no conflicts frontotemporal dementia germline Detail
Pathogenic 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline not provided unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Pick disease,frontotemporal dementia,Progressive supranuclear palsy-parkinsonism syndrome,Progressive supranuclear ophthalmoplegia,Parkinson disease, late-onset unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Pick disease,frontotemporal dementia,Progressive supranuclear palsy-parkinsonism syndrome,Progressive supranuclear ophthalmoplegia,Parkinson disease, late-onset unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Pick disease,frontotemporal dementia,Progressive supranuclear palsy-parkinsonism syndrome,Progressive supranuclear ophthalmoplegia,Parkinson disease, late-onset unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Pick disease,frontotemporal dementia,Progressive supranuclear palsy-parkinsonism syndrome,Progressive supranuclear ophthalmoplegia,Parkinson disease, late-onset unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Pick disease,frontotemporal dementia,Progressive supranuclear palsy-parkinsonism syndrome,Progressive supranuclear ophthalmoplegia,Parkinson disease, late-onset unknown Detail
Pathogenic 2009-07-14 no assertion criteria provided Supranuclear palsy, progressive, 1 germline Detail
Pathogenic 2023-06-20 criteria provided, single submitter MAPT-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.369 frontotemporal dementia Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), t... BeFree 23885714 Detail
0.248 Pick Disease of the Brain Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), t... BeFree 23885714 Detail
0.461 frontotemporal dementia Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), t... BeFree 23885714 Detail
0.019 Presenile dementia Dementia in one or more first-degree family members was found in 43% of patients... BeFree 12876142 Detail
0.233 dementia Dementia in one or more first-degree family members was found in 43% of patients... BeFree 12876142 Detail
0.461 frontotemporal dementia NA CLINVAR Detail
0.461 frontotemporal dementia Moreover, we observed similarly reduced taxol/GTP-stimulated tubulin polymerizat... BeFree 16155344 Detail
0.004 frontotemporal dementia Moreover, we observed similarly reduced taxol/GTP-stimulated tubulin polymerizat... BeFree 16155344 Detail
0.461 frontotemporal dementia We have studied biochemical and structural parameters of several missense and de... BeFree 10995239 Detail
0.432 Pick Disease of the Brain We have studied biochemical and structural parameters of several missense and de... BeFree 10995239 Detail
0.017 Frontotemporal Lobar Degeneration Patients with familial FTLD associated with exon 10 N279K, N296H or +16 splice s... BeFree 16552612 Detail
0.043 Neurofibrillary degeneration (morphologic abnormality) Patients with familial FTLD associated with exon 10 N279K, N296H or +16 splice s... BeFree 16552612 Detail
0.558 progressive supranuclear palsy NA CLINVAR Detail
0.043 Neurofibrillary degeneration (morphologic abnormality) Transgenic mice overexpressing the P301L mutant human tau protein exhibit an acc... BeFree 15831501 Detail
0.209 Tauopathies Unexpectedly, Pin1 knockdown or KO decreased P301L tau protein stability and abo... BeFree 18431510 Detail
0.043 Neurofibrillary degeneration (morphologic abnormality) To elucidate the relationship between cholesterol and tau, we compared sterol le... BeFree 25101701 Detail
0.461 frontotemporal dementia Neuropathological and biochemical findings are reported in a patient who had suf... BeFree 14757934 Detail
0.209 Tauopathies Here we used the non-invasive, Manganese-Enhanced Magnetic Resonance Imaging tec... BeFree 22960250 Detail
0.209 Tauopathies In the present study, we employed a somatic cell gene transfer technique to crea... BeFree 22561128 Detail
0.121 semantic dementia Familial semantic dementia with P301L mutation in the Tau gene. BeFree 21555888 Detail
0.432 Pick Disease of the Brain Contrasting genotypes of the tau gene in two phenotypically distinct patients wi... BeFree 12111297 Detail
0.461 frontotemporal dementia The P301L mutation is causal for frontotemporal dementia with parkinsonism-17 (F... BeFree 22561128 Detail
0.209 Tauopathies In a mouse model of tauopathy based on stereotaxic delivery in hippocampus of an... BeFree 24277722 Detail
0.209 Tauopathies The JNPL3 mice express human tau proteins bearing a P301L mutation, which mimics... BeFree 22975846 Detail
0.461 frontotemporal dementia Contrasting genotypes of the tau gene in two phenotypically distinct patients wi... BeFree 12111297 Detail
0.015 Neurofibrillary degeneration (morphologic abnormality) To elucidate the relationship between cholesterol and tau, we compared sterol le... BeFree 25101701 Detail
0.209 Tauopathies Previous studies identified EFhd2 associated with pathological forms of tau prot... BeFree 23331044 Detail
0.209 Tauopathies The rTg4510 mouse, a fronto-temporal dementia and parkinsonism-17 (FTDP-17) tauo... BeFree 24936422 Detail
0.461 frontotemporal dementia We also examined postural sway in mice expressing mutations that mimic frontotem... BeFree 17764851 Detail
0.432 Pick Disease of the Brain We investigated three separate families (designated D, F and G) with frontotempo... BeFree 10219785 Detail
0.170 Parkinsonian Disorders Agraphia in patients with frontotemporal dementia and parkinsonism linked to chr... BeFree 23121543 Detail
0.461 frontotemporal dementia We investigated three separate families (designated D, F and G) with frontotempo... BeFree 10219785 Detail
<0.001 Hemispatial Neglect New features included hemispatial neglect and unilateral resting tremor not prev... BeFree 20561037 Detail
<0.001 Motor symptoms We also examined postural sway in mice expressing mutations that mimic frontotem... BeFree 17764851 Detail
<0.001 Motor symptoms We also examined postural sway in mice expressing mutations that mimic frontotem... BeFree 17764851 Detail
<0.001 frontotemporal dementia We also examined postural sway in mice expressing mutations that mimic frontotem... BeFree 17764851 Detail
0.432 Pick Disease of the Brain Neuropathological and biochemical findings are reported in a patient who had suf... BeFree 14757934 Detail
<0.001 Motor symptoms We also examined postural sway in mice expressing mutations that mimic frontotem... BeFree 17764851 Detail
<0.001 frontotemporal dementia We also examined postural sway in mice expressing mutations that mimic frontotem... BeFree 17764851 Detail
<0.001 Resting Tremor New features included hemispatial neglect and unilateral resting tremor not prev... BeFree 20561037 Detail
0.461 frontotemporal dementia Significantly, the reduction in mitochondrial complex V levels in the P301L tau ... BeFree 15831501 Detail
0.043 Neurofibrillary degeneration (morphologic abnormality) Tau mutations are associated with frontotemperal dementia with parkinsonism on c... BeFree 25881209 Detail
0.170 Parkinsonian Disorders Contrasting genotypes of the tau gene in two phenotypically distinct patients wi... BeFree 12111297 Detail
0.275 Alzheimer's disease Genetic tau mutations can cause FTDP-17, and mice overexpressing tau mutants suc... BeFree 18431510 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) AND Frontotemporal dementia ClinVar Detail
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) AND not provided ClinVar Detail
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) AND multiple conditions ClinVar Detail
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) AND multiple conditions ClinVar Detail
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) AND multiple conditions ClinVar Detail
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) AND multiple conditions ClinVar Detail
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) AND multiple conditions ClinVar Detail
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) AND Supranuclear palsy, progressive, 1 ClinVar Detail
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu) AND MAPT-related disorder ClinVar Detail
Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant se... DisGeNET Detail
Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant se... DisGeNET Detail
Thirty brain regions were examined in argyrophilic grain disease (AGD; n = 5), tangle-predominant se... DisGeNET Detail
Dementia in one or more first-degree family members was found in 43% of patients and mutation analys... DisGeNET Detail
Dementia in one or more first-degree family members was found in 43% of patients and mutation analys... DisGeNET Detail
NA DisGeNET Detail
Moreover, we observed similarly reduced taxol/GTP-stimulated tubulin polymerization from gray matter... DisGeNET Detail
Moreover, we observed similarly reduced taxol/GTP-stimulated tubulin polymerization from gray matter... DisGeNET Detail
We have studied biochemical and structural parameters of several missense and deletion mutants of ta... DisGeNET Detail
We have studied biochemical and structural parameters of several missense and deletion mutants of ta... DisGeNET Detail
Patients with familial FTLD associated with exon 10 N279K, N296H or +16 splice site mutations showed... DisGeNET Detail
Patients with familial FTLD associated with exon 10 N279K, N296H or +16 splice site mutations showed... DisGeNET Detail
NA DisGeNET Detail
Transgenic mice overexpressing the P301L mutant human tau protein exhibit an accumulation of hyperph... DisGeNET Detail
Unexpectedly, Pin1 knockdown or KO decreased P301L tau protein stability and abolished its robust ta... DisGeNET Detail
To elucidate the relationship between cholesterol and tau, we compared sterol levels of neurons burd... DisGeNET Detail
Neuropathological and biochemical findings are reported in a patient who had suffered from frontotem... DisGeNET Detail
Here we used the non-invasive, Manganese-Enhanced Magnetic Resonance Imaging technique (MEMRI), to s... DisGeNET Detail
In the present study, we employed a somatic cell gene transfer technique to create a rodent model of... DisGeNET Detail
Familial semantic dementia with P301L mutation in the Tau gene. DisGeNET Detail
Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of... DisGeNET Detail
The P301L mutation is causal for frontotemporal dementia with parkinsonism-17 (FTDP-17), but it has ... DisGeNET Detail
In a mouse model of tauopathy based on stereotaxic delivery in hippocampus of an adeno-associated vi... DisGeNET Detail
The JNPL3 mice express human tau proteins bearing a P301L mutation, which mimics the neurodegenerati... DisGeNET Detail
Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of... DisGeNET Detail
To elucidate the relationship between cholesterol and tau, we compared sterol levels of neurons burd... DisGeNET Detail
Previous studies identified EFhd2 associated with pathological forms of tau proteins in the tauopath... DisGeNET Detail
The rTg4510 mouse, a fronto-temporal dementia and parkinsonism-17 (FTDP-17) tauopathy model, over-ex... DisGeNET Detail
We also examined postural sway in mice expressing mutations that mimic frontotemporal dementia with ... DisGeNET Detail
We investigated three separate families (designated D, F and G) with frontotemporal dementia that ha... DisGeNET Detail
Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301... DisGeNET Detail
We investigated three separate families (designated D, F and G) with frontotemporal dementia that ha... DisGeNET Detail
New features included hemispatial neglect and unilateral resting tremor not previously reported for ... DisGeNET Detail
We also examined postural sway in mice expressing mutations that mimic frontotemporal dementia with ... DisGeNET Detail
We also examined postural sway in mice expressing mutations that mimic frontotemporal dementia with ... DisGeNET Detail
We also examined postural sway in mice expressing mutations that mimic frontotemporal dementia with ... DisGeNET Detail
Neuropathological and biochemical findings are reported in a patient who had suffered from frontotem... DisGeNET Detail
We also examined postural sway in mice expressing mutations that mimic frontotemporal dementia with ... DisGeNET Detail
We also examined postural sway in mice expressing mutations that mimic frontotemporal dementia with ... DisGeNET Detail
New features included hemispatial neglect and unilateral resting tremor not previously reported for ... DisGeNET Detail
Significantly, the reduction in mitochondrial complex V levels in the P301L tau mice revealed using ... DisGeNET Detail
Tau mutations are associated with frontotemperal dementia with parkinsonism on chromosome 17 (FTDP-1... DisGeNET Detail
Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of... DisGeNET Detail
Genetic tau mutations can cause FTDP-17, and mice overexpressing tau mutants such as P301L tau are u... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs63751273 dbSNP
Genome
hg38
Position
chr17:46,010,389-46,010,389
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser