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Table 4 Genetic mutations involved in ALS deficiency [[39]-[47]]

From: Genetic factors associated with small for gestational age birth and the use of human growth hormone in treating the disorder

Genetic mutation

Type of mutation

Homozygous/Heterozygous

E35KfsX87

Frameshift, premature stop codon

Homozygous

El35GfsX17

Frameshift, premature stop codon

Heterozygous

C60S

Missense

Compound heterozygous

P73L

Missense

Homozygous

L134Q

Missense

Homozygous

L172F

Missense

Homozygous

A183SfsX149

Frameshift, premature stop codon

Compound heterozygous

S195_R197dup

In-frame insertion of 3 amino acids, SLR

Compound heterozygous

L241P

Missense

Compound heterozygous

L244F

Missense

Compound heterozygous

N276S

Missense

Homozygous

Q320X

Nonsense

Homozygous

L437_L439dup

In-frame insertion of 3 amino acids, LEL

Homozygous

D440N

Missense

Homozygous

L497FfsX40

Frameshift, premature stop codon

Homozygous

C540R

Missense

Compound heterozygous

  1. ALS, acid-labile subunit.