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Article

Mild SMN missense alleles are only functional in the presence of SMN2 in mammals.

Human molecular genetics - 1 Oct 2018

Iyer Chitra C, Corlett Kaitlyn M, Massoni-Laporte Aurélie, Duque Sandra I, Madabusi Narasimhan, Tisdale Sarah, McGovern Vicki L, Le Thanh T, Zaworski Phillip G, Arnold W David, Pellizzoni Livio, Burghes Arthur H M

Abstract excerpt

Spinal muscular atrophy (SMA) is caused by reduced levels of full-length SMN (FL-SMN). In SMA patients with one or two copies of the Survival Motor Neuron 2 (SMN2) gene there are a number of SMN missense mutations that result in milder-than-predicted SMA phenotypes. These mild SMN missense mutation alleles are often assumed to have partial function. However, it is important to consider the contribution of FL-SMN...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 29982416
DOI: 10.1093/hmg/ddy251
PMCID: PMC6140769

Genes

SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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