Thrombospondin Type 1 Domain-Containing Protein 1

Alternative Names

THSD1
Transmembrane Molecule with Thrombospondin Module
TMTSP

Length

29,006 bases

No. of Exons

No. of isoforms

Protein Name

Thrombospondin type-1 domain-containing protein 1

Molecular Mass

94584 Da

Amino Acid Count

852

Genomic Location

chr13:52,377,166-52,406,171

Gene Map Locus

13q14.3

Description

The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [From RefSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP
NM_018676.3:c.1322_1329del	United Arab Emirates	NC_000013.11:g.52378644_52378651del	Pathogenic	Hydrops Fetalis, Nonimmune	NM_018676.3:c.1322_1329del; NP_061146.1:p.Arg441GlnfsTer66
NM_018676.4:c.1091G>A	Saudi Arabia	NC_000013.11:g.52386117C>T			NG_047168.1:g.25378G>A; NM_018676.4:c.1091G>A; NP_061146.1:p.Arg364His	142793367
NM_018676.4:c.1561C>T	United Arab Emirates	NC_000013.11:g.52378409G>A	Likely Pathogenic	Hydrops Fetalis, Nonimmune	NG_047168.1:g.33086C>T; NM_018676.4:c.1561C>T; NP_061146.1:p.Gln521Ter

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=thsd1

Contributors

Sami Bizzari: 20.07.2022
Asha Deepthi: 10.05.2022
Asha Deepthi: 26.04.2021

Edit History

Sami Bizzari: 20.07.2022
Asha Deepthi: 10.05.2022
Asha Deepthi: 26.04.2021

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