Literature summary for 3.1.3.25 extracted from

Figueiredo, T.; Melo, U.S.; Pessoa, A.L.; Nobrega, P.R.; Kitajima, J.P.; Rusch, H.; Vaz, F.; Lucato, L.T.; Zatz, M.; Kok, F.; Santos, S.
A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability (2016), Mol. Psychiatry, 21, 1125-1129 .

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Application

Application	Comment	Organism
medicine	a homozygous variant consisting of a 5-bp duplication leads to a frameshift and a premature stop codon (p.Ser165Trpfs*10) that cosegregates with the disease of intellectual disability in 26 genotyped family members	Homo sapiens

Cloned(Commentary)

Cloned (Comment)	Organism
-	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	a homozygous variant consisting of a 5-bp duplication leads to a frameshift and a premature stop codon (p.Ser165Trpfs*10) that cosegregates with the disease of intellectual disability in 26 genotyped family members	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P29218	-	-

Synonyms

Synonyms	Comment	Organism
IMPA1	-	Homo sapiens

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Release 2023.1 (January 2023)