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中文
基因组分析显示，c.1118C>T的核苷酸替换导致了在酪氨酸酶第二金属离子结合位点处的Thr373被Ile替换，这是一项导致N-glycosylation序列丧失的氨基酸变化(p.T373I)。(来源：J:105054)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
