# @curesyngap1 on YouTube

- **Type:** Video
- **Original URL:** https://youtube.com/watch?v=C9bGOA2MFHc
- **Gondola URL:** https://gondola.cc/posts/9572656-curesyngap1-youtube
- **Thumbnail:** https://img.gondola.cc/tr:w-,h-,fo-auto/thumbnails/d5da7e1380.jpg
- **Posted:** 2023-10-25T19:17:11.000+00:00

## Caption

SYNGAP1 Missense Variants: SRF Awards Turku $100,000 to Investigate Using Structural Bioinformatics - #S10e121

“The grant will fund the computational analysis of SYNGAP1  missense variants and the construction of an online server called SynGAP Missense (SGM) server providing clinicians and others open access to the modeling and bioinformatics results.”

Types of mutations
https://youtu.be/xYOK-yzUWSI 

SYNGAP1 on Alphafold
https://alphafold.ebi.ac.uk/entry/F6SEU4 

Dr. Underbake on Disordered/Unstructured Proteins
https://youtu.be/Q11q_m_tV88?si=Ix9Gr7RSiCdFCgqH&t=830 

Common Missense
https://www.syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344 

Young c.980T-C p.Leu327Pro
http://clinvar.com/ SYNGAP1 c.980C-T
2015 UK https://pubmed.ncbi.nlm.nih.gov/26079862/
2018 SK https://pubmed.ncbi.nlm.nih.gov/29390993/ 

SRF iPSCs
https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments 

Dr. Courtney Grant
https://www.eurekalert.org/news-releases/957967 

Dr. Courtney Webinar https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations 

Dr. Haas Webinar
https://www.syngapresearchfund.org/webinars/functional-assessment-of-missense-variants-of-syngap1-kurt-haas 

EpiMVP
https://epimvp.med.umich.edu/ 

https://leonandfriends.org/ started this work
https://www.syngapresearchfund.org/leon 
#S10e73 https://www.youtube.com/watch?v=FJgXP4l0cuk 

Register for the Conference!
35 Days until the Conference - Sign up by Halloween.
https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-hosted-by-syngap-research-fund-srf

#SyngapConf Conference Agenda Announced!
#S10e120 described the agenda… https://www.youtube.com/watch?v=Q9U-Ggz_K2I 
Press release  https://www.syngapresearchfund.org/post/uniting-for-progress-the-fifth-annual-syngap1-conference-hosted-by-syngap-research-fund-srf-will-take-place-november-30th-in-orlando-florida-syngapconf 

Give all three of our podcasts 5 stars everywhere.  
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 

This is a podcast subscribe!
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 

Episode 121 of #Syngap10 - October 25, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat

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- **Views:** 131
- **Likes:** 4
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## Tags

id, autism, s10e73, syngapconf, neurology, genechat, syngap10, epilepsy, raredisease, careaboutrare, syngapresearchfund, rarediseaseresearch, anxiety, patientadvocacy, autismawareness, s10e120, gcchat, s10e121, intellectualdisability, epilepsyawareness

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