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The mutation is a T-to-A transversion at codon 192 in exon 6. This is predicted to alter a leucine to a glycine in the H6 alpha-helix on the outer surface of the protein. TPI1 activity in heterozygotes is 50% that of wild-type in blood; and also reduced in liver, lung, spleen, kidney, brain, heart and muscle. (J:25049)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
