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EN
The mutation is a T-to-C transition at nucleotide position 1642 (Genbank Accession NM_008608) resulting in replacement of serine by proline at amino acid position 422 of the protein (S422P), near the middle of the hemopexin-like domain, which is involved in homodimer formation and mediates association with and cleavage of CD44. (J:133626)
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
