Homo sapiens presenilin 1 (PSEN1), RefSeqGene (LRG_224) on chromosome - Nucleotide

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Presenilin-1 mutation position influences amyloidosis, small vessel disease, and dementia with disease stage. [Alzheimers Dement. 2024]
Presenilin-1 mutation position influences amyloidosis, small vessel disease, and dementia with disease stage.
Joseph-Mathurin N, Feldman RL, Lu R, Shirzadi Z, Toomer C, Saint Clair JR, Ma Y, McKay NS, Strain JF, Kilgore C, et al. Alzheimers Dement. 2024 Apr; 20(4):2680-2697. Epub 2024 Feb 21.
Neuropathology of patients with preclinical or early clinical Alzheimer's disease with pathogenic PSEN1_p. L392V: Comparison of advanced siblings. [Alzheimers Dement. 2024]
Neuropathology of patients with preclinical or early clinical Alzheimer's disease with pathogenic PSEN1_p. L392V: Comparison of advanced siblings.
Hata Y, Nakase M, Ichimata S, Yoshida K, Nishida N. Alzheimers Dement. 2024 Mar; 20(3):2291-2296. Epub 2024 Jan 12.
Age of onset predicted by Aβ profiling in a novel PSEN1 (I180F) mutation. [Neurosci Lett. 2024]
Age of onset predicted by Aβ profiling in a novel PSEN1 (I180F) mutation.
Robbie L, Fernández SG, Montoya L, Sagare A, Barrera L, Sheikh-Bahaei N, Gutierrez LC, Ringman JM. Neurosci Lett. 2024 Jan 18; 820:137591. Epub 2023 Dec 14.

RefSeq alternative splicing
See 18 reference mRNA sequence splice variants for the PSEN1 gene.

Protein
Protein sequence from Nucleotide coding region
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PREDICTED: Myotis lucifugus TATA-box binding protein like 1 (TBPL1), transcript ...
PREDICTED: Myotis lucifugus TATA-box binding protein like 1 (TBPL1), transcript variant X2, mRNA
gi|1335122154|ref|XM_006084460.3|

Nucleotide
Taxonomy Links for Protein (Select 1039770749) (1)
Taxonomy
Concise Conserved Domain Links for Protein (Select 127513) (3)
Conserved Domains
Genome Links for Protein (Select 119395736) (1)
Genome
Homo sapiens
Homo sapiens

Genome

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Nucleotide