Patients

Link to Pubmed	Location	DNA nomenclature	RNA nomenclature	Protein nomenclature	Type of variant DNA	Type of variant RNA	Type of variant Protein	MAF	RS number	Biochemical evidence of pathogenicity	Splicing and translation prediction	Biochemical evidence of CRIM status	Prediction of CRIM status	Number of patients	Id	Predicted severity	Phenotype with null allele	CRIM status	Missense prediction (Mutation Taster)	Missense prediction (SIFT)	Missense prediction (Align GVGD)
PubMed	exon 2	c.1A>G	r.(1a>g)	p.(0)	Substitution	Substitution	Substitution (translation initiation codon)	MAF not reported		no protein on western blot	no effect on splicing - disrupts translation start codon	no endogeneous protein on western blot	protein is not expressed		36	Very severe	Classic infantile or Childhood	Negative

Displaying 1 - 3 of 3

Link to patients	Allele 1 DNA	Allele 2 Location	Allele 2 DNA	Allele 2 Phenotype with a null allele	Phenotype of patient	Age of Onset	Gender	Age at analysis	Cardiomyopathy	Ventilatory support	Respiratory problems	No of patients reported	Country/Region
PubMed	c.1A>G	exon 2	c.1A>G	Classic infantile or Childhood	unknown	<2 years		unknown				1	unknown
PubMed	c.1A>G	exon 2	c.1A>G	Classic infantile or Childhood	Classic infantile	2 months	M	6 months	+	Tracheostomy	+	1	Italy
PubMed	c.1A>G		second mutation is not reported		Classic infantile	<12 months			+			4	Northern India, Southern India