Delta-Like 3 - CAGS

Delta-Like 3

Alternative Names

DLL3
Delta, Drosophila, Homolog of

Associated Diseases

Spondylocostal Dysostosis, Autosomal Recessive, 1

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OMIM Number

NCBI Gene ID

Uniprot ID

Length

9,587

No. of Exons

8

No. of isoforms

2

Protein Name

Delta-like protein 3

Molecular Mass

64618

Amino Acid Count

618

Genomic Location

chr19:39,498,895-39,508,481

Gene Map Locus

19q13.2

Description

DLL3 encodes a member of the delta protein ligand family that exhibit notch ligands containing delta-serrate-lag2, epidermal growth factor-like, and transmembrane domains.

Epidemiology in the Arab World

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_016941.3:c.614_615ins13	Lebanon	39503019ins13		Likely Pathogenic	Spondylocostal Dysostosis, Autosomal Recessive, 1	NG_008256.1:g.9103_9104ins13 ; NM_016941.3:c.614_615ins13
NM_016941.3:c.926G>A	Palestine	39505284G>A		Likely Pathogenic	Spondylocostal Dysostosis, Autosomal Recessive, 1	NG_008256.1:g.11368G>A ; NM_016941.3:c.926G>A; NP_058637.1:p.Cys309Tyr
NM_016941.4:c.1136G>A	Saudi Arabia	NC_000019.10:g.39507081G>A	Likely Pathogenic, Pathogenic	Pathogenic	Spondylocostal Dysostosis, Autosomal Recessive, 1	NG_008256.1:g.13165G>A; NM_016941.4:c.1136G>A; NP_058637.1:p.Cys379Tyr	786205519	191104
NM_016941.4:c.329del	Saudi Arabia	NC_000019.10:g.39499451del		Pathogenic	Spondylocostal Dysostosis, Autosomal Recessive, 1	NG_008256.1:g.5535del; NM_016941.4:c.329del; NP_058637.1:p.Val110GlyfsTer22
NM_016941.4:c.594_598GCGGT[3]	Palestine	chr19:39503008_39503003	Pathogenic	Pathogenic	Spondylocostal Dysostosis, Autosomal Recessive, 1	NG_008256.1:g.9083_9087GCGGT[3] ; NM_016941.4:c.594_598GCGGT[3] ; NP_058637.1:p.Pro202Alafs	786200899	6828
NM_016941.4:c.599_603dup	Arab	NC_000019.10:g.39502999GCGGT[3]	Pathogenic	Pathogenic	Spondylocostal Dysostosis, Autosomal Recessive, 1	NG_008256.1:g.9083GCGGT[3]; NM_016941.4:c.599_603dup; NP_058637.1:p.Pro202AlafsTer41	786200899	6828

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External Links

https://medlineplus.gov/genetics/gene/dll3/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=DLL3

Contributors

Asha Deepthi: 11.11.2021
Sami Bizzari: 12.02.2020

Edit History

Asha Deepthi: 11.11.2021
Sami Bizzari: 12.02.2020
Sarah Al-Haj Ali: 20.11.2004
Sarah Al-Haj Ali: 10.11.2004

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.