Exome sequencing identified a novel Col6α1 mutation in an Iranian patient with Ullrich congenital muscular dystrophy: a case report

Egyptian Journal of Medical Human Genetics

Table 1 Reported mutations in the COL6α1 gene [6]

Phenotype	History	Gene mutation	Exon intron	Domain affected	Nucleotide change	Protein change	Source
Moderate-progressive UCMD	Sporadic	COL6A2	Intron 9	THD	c.955-2_955-1delAG	p.Gly319_Lys333del	De novo
Progressive UCMD	recessive	COL6A2	Exon 28	C2	c.2642_2643insG	p.Phe882ValfsX111	Maternal
Moderate UCMD	recessive	COL6A2	Exon 21	THD	c.1645_1652del	p.Gly549ArgfsX14	Paternal
Progressive UCMD	recessive	COL6A2	Exon 28	C2	c.2642delA	p.Gln881ArgfsX13	Paternal
Mild UCMD	recessive	COL6A2	Exon 28	C2	c.2548_2550delCAC	p.850del_His	Paternal
BM	Dominant phenotype	COL6A1	Exon 2	N1	c112_129del	p.Leu38_Asp43del	Maternal
BM	recessive	COL6A2	Exon 26	C1	c.2395_2397delGAT	p.Asp800del	Paternal