{"id":1799,"date":"2022-12-01T00:45:35","date_gmt":"2022-12-01T00:45:35","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1799"},"modified":"2026-02-23T00:25:55","modified_gmt":"2026-02-23T00:25:55","slug":"single-amino-acid-variation-in-mab21l1-is-dominantly-associated-with-congenital-eye-defects","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/01\/single-amino-acid-variation-in-mab21l1-is-dominantly-associated-with-congenital-eye-defects\/","title":{"rendered":"Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects (Contributed by Dr. Zhaohui Wang)"},"content":{"rendered":"<p>Microphthalmia\u00a0is a congenital eye defect caused by the underdevelopment of the optical structures typically bearing small eyeballs and cornea. We identified a novel missense variant in <em>MAB21L1<\/em>, which was dominantly inherited in a family with microphthalmia. We analyzed 3D structures of several mutant proteins predicted by AlphaFold2, and observed the effects of the mutant proteins in cultured cells and Drosophila sensory organs. We demonstrate how a nucleotide change in human genome could lead to the structural and functional changes in the encoded protein. Our study will be informative to the doctors and patients planning the early prevention against this congenital anomaly. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2022\/11\/28\/jmg-2022-108506\">https:\/\/jmg.bmj.com\/content\/early\/2022\/11\/28\/jmg-2022-108506<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/01\/single-amino-acid-variation-in-mab21l1-is-dominantly-associated-with-congenital-eye-defects\/group-2\/\" rel=\"attachment wp-att-1800\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1800\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/group-300x225.jpg\" alt=\"\" width=\"300\" height=\"225\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/group-300x225.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/group-1024x768.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/group-768x576.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/group-1536x1152.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/group-2048x1536.jpg 2048w, https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/group-640x480.jpg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>The authors at Institute of Genetics and Developmental Biology, Chinese Academy of Sciences) in Beijing<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Microphthalmia\u00a0is a congenital eye defect caused by the underdevelopment of the optical structures typically bearing small eyeballs and cornea. We identified a novel missense variant in MAB21L1, which was dominantly inherited in a family with microphthalmia. We analyzed 3D structures of several mutant proteins predicted by AlphaFold2, and observed the effects of the mutant proteins [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/01\/single-amino-acid-variation-in-mab21l1-is-dominantly-associated-with-congenital-eye-defects\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1799","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects (Contributed by Dr. Zhaohui Wang) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/01\/single-amino-acid-variation-in-mab21l1-is-dominantly-associated-with-congenital-eye-defects\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects (Contributed by Dr. Zhaohui Wang) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Microphthalmia\u00a0is a congenital eye defect caused by the underdevelopment of the optical structures typically bearing small eyeballs and cornea. We identified a novel missense variant in MAB21L1, which was dominantly inherited in a family with microphthalmia. We analyzed 3D structures of several mutant proteins predicted by AlphaFold2, and observed the effects of the mutant proteins [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2022\/12\/01\/single-amino-acid-variation-in-mab21l1-is-dominantly-associated-with-congenital-eye-defects\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2022-12-01T00:45:35+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:25:55+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2022\/12\/group-scaled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2560\" \/>\n\t<meta property=\"og:image:height\" content=\"1920\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/01\\\/single-amino-acid-variation-in-mab21l1-is-dominantly-associated-with-congenital-eye-defects\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/01\\\/single-amino-acid-variation-in-mab21l1-is-dominantly-associated-with-congenital-eye-defects\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects (Contributed by Dr. Zhaohui Wang)\",\"datePublished\":\"2022-12-01T00:45:35+00:00\",\"dateModified\":\"2026-02-23T00:25:55+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/01\\\/single-amino-acid-variation-in-mab21l1-is-dominantly-associated-with-congenital-eye-defects\\\/\"},\"wordCount\":145,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/01\\\/single-amino-acid-variation-in-mab21l1-is-dominantly-associated-with-congenital-eye-defects\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2022\\\/12\\\/group-300x225.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/01\\\/single-amino-acid-variation-in-mab21l1-is-dominantly-associated-with-congenital-eye-defects\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/01\\\/single-amino-acid-variation-in-mab21l1-is-dominantly-associated-with-congenital-eye-defects\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2022\\\/12\\\/01\\\/single-amino-acid-variation-in-mab21l1-is-dominantly-associated-with-congenital-eye-defects\\\/\",\"name\":\"Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects (Contributed by Dr. Zhaohui Wang) - 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