Individual #00449810

ID_report -
Reference Journal: Tefs 2006
Remarks Five independent families with homozygous affected patients have been shown as carrying a c.112A>G variant. Heterozygous carriers of these 5 families are not affected.
Three independent families with compound heterozygous affected patients have been shown as carrying both c.112A>G and c.1468C>T variants.
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Panel size 8
Diseases deficiency, plasminogen, type I
Owner name Christian Drouet
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Christian Drouet
Date created 2024-05-15 15:13:57 +02:00 (CEST)
Date last edited 2024-05-16 12:32:17 +02:00 (CEST)


Phenotypes

deficiency, plasminogen, type I (-)   Add phenotype for this disease

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Owner     
0000338956 Thrombophilia; conjonctiva - - Familial - - - - - Christian Drouet
0000338969 Thrombophilia; conjonctiva, gingiva, ears - - Familial - - - - - Christian Drouet



Screenings


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Owner     
0000451405 DNA ? blood - PLG 2 Christian Drouet
0000451418 DNA SEQ blood - PLG 1 Christian Drouet



Variants

3 entries on 1 page. Showing entries 1 - 3.
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AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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Protein level     
6 Both (homozygous) +/+ ACMG pathogenic (recessive) g.161127501A>G g.160706469A>G K19E - PLG_000017 tPA-mediated activation assays could predict the clinical outcome for Lys38Glu carriers, but fibrin-independent uPA-mediated assays could not: p.Lys38Glu variant is likely not to be able to efficiently engage fibrin, with a subsequent short half-life. Lys19 is a very conserved residue among primates. One possible mechanism for plasminogen deficiency resulting from Lys to Glu substitution could be its location in the N-terminus region. In Glu1-PLG, p.Lys38Glu variant may lead to a relaxed conformational state, which is easier to activate and degrade. Journal: Tefs 2006 Journal: Bourrienne 2020 ClinVar-RCV000014551.38 rs73015965 Germline yes 0.00282 - - - Christian Drouet PLG - - - - 2 NM_000301.3:c.112A>G - r.(?) p.(Lys38Glu) - - - - - - - - - - - - - -
6 Parent #1 +?/+? ACMG pathogenic (recessive) g.161127501A>G g.160706469A>G - - PLG_000017 Variants c.112A>G and c.1468C>T have been found carried by compound heterozygous affected patients Journal: Tefs 2006 ClinVar-RCV000014551.38 rs73015965 Germline yes 0.00282 - - - Christian Drouet PLG - - - - 2 NM_000301.3:c.112A>G - r.(?) p.(Lys38Glu) - - - - - - - - - - - - - -
6 Parent #2 +/+ ACMG pathogenic (recessive) g.161152806C>T g.160731774C>T R471X - PLG_000066 Secretion kinetics of PLG variant Arg490Ter appears to be normal, but protein derived from truncated PLG variant was detectable as a 62-kDa band due to a lack of the PLG beta-chain and part of kringle 5 domain. Journal: Tefs 2006 ClinVar-RCV003555313.1 - Germline yes - - - - Christian Drouet PLG - - - - 12 NM_000301.3:c.1468C>T - r.(?) p.(Arg490*) - - - - - - - - - - - - - -
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