WebNov 30, 2024 · CRYGS gene Overview Congenital cataracts References Overview Jump to top References Devi RR, Yao W, Vijayalakshmi P, Sergeev YV, Sundaresan P, Hejtmancik JF. Crystallin gene mutations in Indian families with inherited pediatric cataract. Mol Vis. 2008;14:1157‐1170 WebNM_017541.4(CRYGS):c.32A>G (p.Tyr11Cys) AND Cataract 20 multiple types Clinical significance: Uncertain significance (Last evaluated: Aug 31, 2024) Review status: 1 star out of maximum of 4 stars
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Web6,060 Likes, 24 Comments - Suno Chanda 鹿 (@jiya_arsal_addiction) on Instagram: "Their eye contacts were the best .. 鹿 . . . @handemiyy @_burakdeniz #handemiyy # ... WebMutation screening in 25 Chinese families with congenital cataracts identified pathogenic variants in 10 families (40%) in 12 genes encoding crystallins ( CRYAA, CRYAB, CRYBA1, CRYBB1, CRYBB2, CRYBB3, CRYBA4, CRYGS, CRYGC, CRYGD ), and connexins ( GJA3 and GJA8 ). local authority for albrighton
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WebJan 23, 2007 · CRYGS (CRYG8) Amino acids 178 Protein existence Evidence at protein level Annotation score 5/5 Entry Feature viewer Publications External links History BLAST Align Download Add Add a publication Entry feedback Function Crystallins are the dominant structural components of the vertebrate eye lens. Features Showing features for region, … WebJul 14, 2016 · The replacement of glycine at position 57 by the tryptophan residue in human γS-crystallin weakens the stability of the mutant molecule and causes the molecule to … WebMar 21, 2024 · CRYBB1 (Crystallin Beta B1) is a Protein Coding gene. Diseases associated with CRYBB1 include Cataract 17, Multiple Types and Cataract Microcornea Syndrome . Gene Ontology (GO) annotations related to this gene include structural constituent of eye lens . An important paralog of this gene is CRYBB3. UniProtKB/Swiss-Prot Summary for … local authority flex funding