FlyBase Allele Report: Hsap\PRPF19[L499F.UAS]

General Information

Symbol

Hsap\PRPF19^L499F.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0398131

Feature type

allele

Associated gene

Hsap\PRPF19

Associated Insertion(s)

Carried in Construct

P{UAS-hPRPF19.L499F}

Key Links

Transgenic product class

missense_variant

(Li et al., 2024)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Li et al., 2024)

Mutagen

in vitro construct

(Li et al., 2024)

Progenitor genotype

Carried in construct

P{UAS-hPRPF19.L499F}

Cytology

Description

UAS sequences regulate expression of Hsap\PRPF19 carrying a L499F amino acid substitution, a variant identified in patients with a neurodevelopmental disorder.

(Li et al., 2024)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\PRPF19

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Expression Data

Reporter Expression

Additional Information

Statement

Reference

Marker for

Reflects expression of

Reporter construct used in assay

Human Disease Associations

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 1 )

Disease

Evidence

References

model of syndromic intellectual disability

CEC

(Li et al., 2024)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Li et al., 2024)

PRPF19:p.Leu499Phe

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

neurodevelopmental disorder, PRPF19-related

External database links

ClinVar: 1213770

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

Hsap\PRPF19^L499F.UAS, Scer\GAL4^elav.PU is a suppressor of decreased size | larval stage phenotype of Prp19^HMS00652, Scer\GAL4^elav.PU

(Li et al., 2024)

Hsap\PRPF19^L499F.UAS, Scer\GAL4^elav.PU is a suppressor of lethal phenotype of Prp19^HMS00652, Scer\GAL4^elav.PU

(Li et al., 2024)

Hsap\PRPF19^L499F.UAS, Scer\GAL4^elav.PU is a suppressor of decreased occurrence of cell division | larval stage phenotype of Prp19^HMS00652, Scer\GAL4^elav.PU

(Li et al., 2024)

Other

Statement

Reference

Hsap\PRPF19^L499F.UAS, Prp19^HMS00652, Scer\GAL4^elav.PU has abnormal behavior | adult stage phenotype

(Li et al., 2024)

Phenotype Manifest In

Suppressor of

Statement

Reference

Hsap\PRPF19^L499F.UAS, Scer\GAL4^elav.PU is a suppressor of lobe system of larval mushroom body | larval stage phenotype of Prp19^HMS00652, Scer\GAL4^elav.PU

(Li et al., 2024)

Hsap\PRPF19^L499F.UAS, Scer\GAL4^elav.PU is a suppressor of larval brain | larval stage phenotype of Prp19^HMS00652, Scer\GAL4^elav.PU

(Li et al., 2024)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (1)

Reported As

Symbol Synonym

Hsap\PRPF19^L499F.UAS

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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