Sequencing of the b allele revealed 5 nucleotide differences compared to the a allele. These changes alter the amino acid residues 11, 15, 17, 19 and 209 of the encoded protein from Arg, Cys, Val, Cys and Ile to Gly, Tyr, Ala, Arg and Leu, respectively. This encoded protein has greater activity than the protein encoded by the b allele as demonstrated in an in vitro assay. Further studies attributed most of the activity difference to the variation at position 209. (J:43930)
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基础信息

模型ID
品系来源
等位基因类型
突变
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Nucleotide substitutions
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1
5
7

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标签摘要:
hm: 纯合子
ht: 杂合子
cn: 条件基因型
cx: 复合型:涉及多基因组
tg: 转基因
ot: 其他:半合子、不确定...
(F): 雌性
(M): 雄性
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(#): 上标括号内为相关疾病数量
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