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CRISPR/Cas9 technology generated a G to A point mutation resulting in a threonine substitution for alanine at amino acid 391 (A391T) in exon 8. The A391T variant has been identified in 8% of people with European ancestry and is reported to encode a protein with reduced function. GWAS studies indicate that A391T mutation may be associated with hypertension. (J:101977)
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
