Literature summary for 3.1.6.8 extracted from

Issa, A.B.; Feki, F.K.; Jdila, M.B.; Khabou, B.; Rhouma, B.B.; Ammar-Keskes, L.; Triki, C.; Fakhfakh, F.
Clinical, molecular, and computational analysis showed a novel homozygous mutation among the substrate-binding site of ARSA protein in consanguineous family with late-infantile MLD (2018), J. Mol. Neurosci., 66, 17-25 .

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Application

Application	Comment	Organism
medicine	mutation H231Q occurs in three patients belonging to a consanguineous family with late-infantile metachromatic leukodystrophy disorder MLD. The mutation leads to changes in the pre-mRNA secondary structure and in the ArsA protein structure	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
H231Q	mutation identified in three patients belonging to a consanguineous family with late-infantile metachromatic leukodystrophy disorder MLD. The mutation leads to changes in the pre-mRNA secondary structure and in the ArsA protein structure	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P15289	-	-

Synonyms

Synonyms	Comment	Organism
ARSA	-	Homo sapiens

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Release 2023.1 (January 2023)