PRO Term |
GO Annotation |
Evidence |
PR:000037532
hMAPT/var:L284R
Leu-284, CHEBI:29952
|
associated_with_disease_progression |
DOID:680 tauopathy
|
Alzforum:mapt-l284r |
PR:000037533
hMAPT/var:N296H
Asn-296, CHEBI:29979
|
associated_with_disease_progression |
DOID:9255 frontotemporal dementia
|
PMID:11585254, PMID:11906000, UniProtKB_VAR:VAR_019663 |
PR:000037530
hMAPT/var:N279K
Asn-279, CHEBI:29967
|
associated_with_disease_progression |
DOID:9255 frontotemporal dementia
|
PMID:10412802, PMID:10489057, PMID:10802785, PMID:12473774, PMID:9789048, UniProtKB_VAR:VAR_010346 |
PR:000037531
hMAPT/var:K280del
|
associated_with_disease_progression |
DOID:9255 frontotemporal dementia
|
PMID:9973279, UniProtKB_VAR:VAR_010347 |
PR:000037536
hMAPT/var:P301L
Pro-301, CHEBI:30006
|
associated_with_disease_progression |
DOID:9255 frontotemporal dementia
|
PMID:10214944, PMID:9641683, PMID:9736786, PMID:9789048, PMID:9973279, UniProtKB_VAR:VAR_010348 |
PR:000037537
hMAPT/var:G303V
Gly-303, CHEBI:30015
|
associated_with_disease_progression |
DOID:680 tauopathy
|
Alzforum:mapt-g303v |
associated_with_disease_progression |
DOID:678 progressive supranuclear palsy
|
PMID:16157753, UniProtKB_VAR:VAR_037439 |
PR:000037534
hMAPT/var:P301S
Pro-301, CHEBI:29999
|
associated_with_disease_progression |
DOID:9255 frontotemporal dementia
|
PMID:10374757, PMID:10553987, PMID:11071507, PMID:16240366, UniProtKB_VAR:VAR_010349 |
PR:000045432
hMAPT/var:S285R
Ser-285, CHEBI:29952
|
associated_with_disease_progression |
DOID:678 progressive supranuclear palsy
|
Alzforum:mapt-s285r |
PR:000037539
hMAPT/var:S305N
Ser-305, CHEBI:50347
|
associated_with_disease_progression |
DOID:9255 frontotemporal dementia
|
PMID:10208578, UniProtKB_VAR:VAR_010350 |
PR:000037525
hMAPT/var:K257T
Lys-257, CHEBI:30013
|
associated_with_disease_progression |
DOID:11870 Pick's disease
|
PMID:11089577, PMID:11117542, UniProtKB_VAR:VAR_010344 |
associated_with_disease_progression |
DOID:680 tauopathy
|
Alzforum:mapt-k257t |
PR:000028709
hMAPT/var:R5H
Arg-5, CHEBI:29979
|
associated_with_disease_progression |
DOID:9255 frontotemporal dementia
|
PMID:11921059, UniProtKB_VAR:VAR_019660 |
PR:000037551
hMAPT/var:G389R
Gly-389, CHEBI:29952
|
associated_with_disease_progression |
DOID:11870 Pick's disease
|
PMID:10604746, PMID:11117542, UniProtKB_VAR:VAR_010352 |
associated_with_disease_progression |
DOID:680 tauopathy
|
Alzforum:mapt-g389r-ga |
PR:000036993
hMAPT/var:Q336H
Gln-336, CHEBI:29979
|
associated_with_disease_progression |
DOID:11870 Pick's disease
|
Alzforum:mapt-q336h |
PR:000037541
hMAPT/var:K317M
Lys-317, CHEBI:16044
|
associated_with_disease_progression |
DOID:9255 frontotemporal dementia
|
PMID:15883319, UniProtKB_VAR:VAR_037440 |
associated_with_disease_progression |
DOID:680 tauopathy
|
Alzforum:mapt-k317m |
PR:000037552
hMAPT/var:R406W
Arg-406, CHEBI:29954
|
associated_with_disease_progression |
DOID:9255 frontotemporal dementia
|
PMID:10214944, PMID:11278002, PMID:11889249, PMID:14517953, PMID:9641683, PMID:9973279, UniProtKB_VAR:VAR_010353 |
PR:000028710
hMAPT/var:R5L
Arg-5, CHEBI:29967
|
associated_with_disease_progression |
DOID:680 tauopathy
|
Alzforum:mapt-r5l |
associated_with_disease_progression |
DOID:678 progressive supranuclear palsy
|
PMID:12325083, UniProtKB_VAR:VAR_019661 |
PR:000028724
hMAPT/var:N296del
|
associated_with_disease_progression |
DOID:680 tauopathy
|
Alzforum:mapt-n296del-dn296 |
associated_with_disease_progression |
DOID:678 progressive supranuclear palsy
|
PMID:11220749, PMID:11906000, PMID:14991828, PMID:14991829, UniProtKB_VAR:VAR_019664 |
PR:000037550
hMAPT/var:K369I
Lys-369, CHEBI:30009
|
associated_with_disease_progression |
DOID:11870 Pick's disease
|
PMID:11601501, UniProtKB_VAR:VAR_019668 |
PR:000037548
hMAPT/var:S352L
Ser-352, CHEBI:30006
|
associated_with_disease_progression |
DOID:680 tauopathy
|
Alzforum:mapt-s352l |
PR:000037528
hMAPT/var:G272V
Gly-272, CHEBI:30015
|
associated_with_disease_progression |
DOID:9255 frontotemporal dementia
|
PMID:9641683, PMID:9973279, UniProtKB_VAR:VAR_010345 |
PR:000037543
hMAPT/var:S320F
Ser-320, CHEBI:29997
|
associated_with_disease_progression |
DOID:11870 Pick's disease
|
PMID:11891833, UniProtKB_VAR:VAR_019665 |
PR:000037542
hMAPT/var:S320Y
Ser-320, CHEBI:46858
|
associated_with_disease_progression |
DOID:680 tauopathy
|
Alzforum:mapt-s320y |
PR:000037527
hMAPT/var:L266V
Leu-266, CHEBI:30015
|
associated_with_disease_progression |
DOID:9255 frontotemporal dementia
|
PMID:12509859, UniProtKB_VAR:VAR_019662 |
PR:000037553
hMAPT/var:N410H
Asn-410, CHEBI:29979
|
associated_with_disease_progression |
DOID:680 tauopathy
|
Alzforum:mapt-n410h |
PR:000037547
hMAPT/var:E342V
Glu-342, CHEBI:30015
|
associated_with_disease_progression |
DOID:9255 frontotemporal dementia
|
PMID:11117541, UniProtKB_VAR:VAR_019666 |
PR:000037546
hMAPT/var:V337M
Val-337, CHEBI:16044
|
associated_with_disease_progression |
DOID:9255 frontotemporal dementia
|
PMID:10214944, PMID:9629852, UniProtKB_VAR:VAR_010351 |
|