3 Matching Annotations
- Oct 2024
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Disease: Von-willebrand Disorder, type 1
Patient 1 Variant: VWF NM_000552.5: c.4135C>T p.(Arg1379Cys) Exon 28
Family: History not mentioned
Patient 1 phenotype: near normal VWF:Ag and WVF:RCo levels RIPA within normal range Platelet VWF levels were normal normal pattern for multimeric analysis of plasma Slightly reduced VWF levels
In silico predictions available:
I-Mutant 3.0 value = -1.36 PYMOL prediction = substitution of ARG 1379 with a cysteine results in the loss of hydrogen bonds with Lys1407 and Lys1408, predicted change in secondary structure of A1 domain
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- Sep 2018
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Systematic identification and analysis of exonic splicing silencers
Tags
Annotators
URL
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link.springer.com link.springer.com
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Estimating the prevalence of functional exonic splice regulatory information
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