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Sequence analysis revealed an in-frame deletion of 6 nucleotides (AACTAT) at coding nucleotides 166-171 (transcript NM_013598) resulting in loss of asparagine 31 and tyrosine 32 (p.N31_Y32del on mature protein or p.N56_Y57del on pre-protein). These residues are located in the extracellular domain and are part of the beta strand structure between the first 2 alpha helical domains. (J:82263)
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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References Literature
Title
PMID
Journal
Year
IF
