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EN
The mutation is a nonsense mutation at base 4645 in exon 30, a sequence that encodes a portion of the chondroitin sulfate proteoglycan (neuron-glial antigen-2) repeat domain of FRAS1. This cytosine to thymine mutation at base 4645 (C4645T) resulted in a change at amino acid 1263 of the encoded protein, changing a glutamine codon to a stop codon. Transcript level was reduced in RNA derived from mutant limb buds. (c.3787C>T, p.Q1263* (NM_175473.3) ) (J:231083)
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
