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The molecular lesion is a T to A transversion at base pair 94,345,990 (v38) on chromosome 15 or base pair 119,429 in the GenBank genomic region NC_000081. This corresponds to nucleotide (nt) 2,116 in the mRNA sequence NM_177431 (isoform 1), within exon 13 of 39 total exons, and to nt 2,116 in the mRNA sequence NM_00164785 (isoform 2), within exon 13 of 28 total exons. The mutation results in a cysteine (C) to serine (S) substitution at amino acid position 619 (C619S) in both Adamts20 protein variants. (J:216051)
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
