这个等位基因包含了在PWD和PWK两个菌株中发现的七处突变:chrX:67920137C>T(新SNP,替换为甘氨酸为谷氨酸,p.G372E);67920143T>G(rs29048003的次要变异,改变370位的谷氨酸为Alanine,p.E370A);67920312G>T(rs29048002的次要变异,314位的谷氨酰胺变为Lysine,p.Q314K);67920431T>A(rs29048000的次要变异,274位的Lysine变为 Methionine,p.K274M);67920805T>A(rs29047999的次要变异,149位的Lysine变为Asparagine,p.K149N);67920818C>T(新SNP,145位的Cysteine变为Tyrosine,p.C145Y);67920822T>G(rs31699485的次要变异,144位的Lysine变为Glutamine,p.K144Q)(GRCm38坐标,参考文献J:292550)。

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Applicable
Spontaneous
核苷酸替换
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1
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1

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

References Literature

Title
PMID
Journal
Year
IF
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