FlyBase Allele Report: Dmel\LamC[N210K.UAS]

General Information

Symbol

Dmel\LamC^N210K.UAS

Species

D. melanogaster

Name

FlyBase ID

FBal0245187

Feature type

allele

Associated gene

Dmel\LamC

Associated Insertion(s)

Carried in Construct

P{UAS-LamC.N210K}

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(Schulze et al., 2009)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Schulze et al., 2009)

Mutagen

in vitro construct

(Schulze et al., 2009)

Progenitor genotype

Carried in construct

P{UAS-LamC.N210K}

Cytology

Description

UASt regulatory sequences drive expression of a modified form of LamC, carrying an N210K mutation.

(Schulze et al., 2009)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

LamC

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:14,572,619..14,572,619 [-]

Nucleotide change:

C14572619R

Amino acid change:

N210K | LamC-PA; N210K | LamC-PB

Reported amino acid change:

N210K

Comment:

Mutation in analogous codon in human LMNA implicated in dilated cardiomyopathy 1A; mutation carried on in vitro construct; site of nucleotide substitution in fly gene and specific disease association inferred by FlyBase curator.

(Schulze et al., 2009)

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 ( 0 )

Disease

Evidence

References

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.

(Schulze et al., 2009)

LMNA:p.Asn195Lys

(FlyBase curators, 2019-)

Variants Synonym(s)

LMNA:p.Asn83Lys

LMNA:p.Asn114Lys

Associated human disease model(s)

dilated cardiomyopathy 1A

External database links

ClinVar: LMNA_14483

Comments concerning this variant

Phenotypic Data

Phenotypic Class

viable, with Scer\GAL4^Act.PU

(Schulze et al., 2009)

viable, with Scer\GAL4^elav.PU

(Schulze et al., 2009)

viable, with Scer\GAL4^ey.PU

(Schulze et al., 2009)

viable, with Scer\GAL4^how-24B

(Schulze et al., 2009)

viable, with Scer\GAL4^Mef2.PR

(Schulze et al., 2009)

viable, with Scer\GAL4^T80

(Schulze et al., 2009)

Phenotype Manifest In

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

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 (2)

Reported As

Symbol Synonym

LamC^{N210K.Scer\UAS}

LamC^N210K.UAS

Name Synonyms

Secondary FlyBase IDs

References (4)

Report Sections

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