Homo sapiens crystallin beta B1 (CRYBB1), RefSeqGene (LRG_1271) on chr - Nucleotide

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Cataract-causing Y204X mutation of crystallin protein CRYβB1 promotes its C-terminal degradation and higher-order oligomerization. [J Biol Chem. 2023]
Cataract-causing Y204X mutation of crystallin protein CRYβB1 promotes its C-terminal degradation and higher-order oligomerization.
Jing X, Zhu M, Lu X, Wei P, Shi L, Zhang BY, Xu Y, Tang YP, Xiang DM, Gong P. J Biol Chem. 2023 Aug; 299(8):104953. Epub 2023 Jun 24.
A novel missense variant c.71G > T (p.Gly24Val) of the CRYBA4 gene contributes to autosomal-dominant congenital cataract in a Chinese family. [Int Ophthalmol. 2023]
A novel missense variant c.71G > T (p.Gly24Val) of the CRYBA4 gene contributes to autosomal-dominant congenital cataract in a Chinese family.
Zhang X, Liang C, Liu M, Wang Z, Leng X, Xie S, Tan X, Yang Y, Liu Y. Int Ophthalmol. 2023 Jan; 43(1):43-50. Epub 2022 Jul 16.
Congenital cataract-causing mutation βB1-L116P is prone to amyloid fibrils aggregation and protease degradation with low structural stability. [Int J Biol Macromol. 2022]
Congenital cataract-causing mutation βB1-L116P is prone to amyloid fibrils aggregation and protease degradation with low structural stability.
Liu J, Xu W, Wang K, Chen F, Ren L, Xu J, Yao K, Chen X. Int J Biol Macromol. 2022 Jan 15; 195:475-482. Epub 2021 Dec 10.

RefSeq alternative splicing
See 3 reference mRNA sequence splice variants for the CRYBB1 gene.

Protein
Protein sequence from Nucleotide coding region
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Leuconostoc mesenteroides strain IMAU20309 excinuclease ABC subunit C gene, part...
Leuconostoc mesenteroides strain IMAU20309 excinuclease ABC subunit C gene, partial cds
gi|763712096|gb|KP035173.1|

Nucleotide
Cataract 17 multiple types
Cataract 17 multiple types

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Nucleotide