Table 1

Genetic changes published for Bethlem myopathy to date

Location and domain		Nucleotide change	Predicted consequence	Comments	Phenotype	Reference
All published data adjusted by authors to reference sequences NM_001848 for COL6A1, NM_001849 for COL6A2, and NM_004369 for COL6A3.
*Plus unpublished data.
AD LGMD, autosomal dominant limb girdle muscular dystrophy; BM, Bethlem myopathy.
COL6A1exon3	N1	c.347 G→A	p.Ser116Asn	Heterozygous change in 3/54 individuals, no confirmatory data	Mild BM	114
COL6A1exon3	N1	c.362A A→G	p.Lys121Arg	Heterozygous change in one large four generation family, not present in 190 control chromosomes	AD LGMD	23
COL6A1exon3	N1	c.428+1 G→A	p.Tyr122_Gly143del	Missplicing with partial loss of exon3; heterozygous change in one four generation family	Mild BM	118
COL6A1exon9	TH	c.821 C→T	p.Pro274Leu	Heterozygous change in 2/77 individuals (first degree relatives) who are also are compound heterozygous for Gly2047Asp in TH of COL6A3, no confirmatory data	BM	114
COL6A1exon10	TH	c.868 G→A	p.Gly290Arg	Heterozygous change in 2/77 individuals, one of them compound heterozygous for Arg677His in COL6A3	Severe BM	114
COL6A1exon11	TH	c.914 G→T	p.Gly305Val	Heterozygous change in one three generation family	BM	116
COL6A1intron11	TH	c.931-1 G→A	p.Gly311AlafsX22	Splice site moved by one base; heterozygous change in one family	BM	119
COL6A1intron13	TH	c.1003-3 C→A	p.Gly335_Asp352del	Exon14 skipping; heterozygous change in 1/78 individuals	BM	114 *
COL6A1exon14	TH	c.1022 G→A	p.Gly341Asp	Heterozygous change in one four generation family	AD LGMD	23
COL6A1exon14	TH	c.1022 G→T	p.Gly341Val	Heterozygous change in 1/78 individuals	BM	114
COL6A1exon14	TH	c.1056+1 G→A	p.Gly335_Asp352del	Exon14 skipping; heterozygous change in one family	BM	117
COL6A1exon14	TH	c.1056+1 G→A	p.Gly335_Asp352del	Exon14 skipping; heterozygous change in one individual (de novo)	BM	79
COL6A1intron14	TH	c.1056+1 G→A	p.Gly335_Asp352del	Exon14 skipping; heterozygous change in 3/77 individuals (two kindreds)	BM	114 *
COL6A1intron14	TH	c.1056+2 T→C	p.Gly335_Asp352del	Exon14 skipping; heterozygous change in one three generation family	BM	78
COL6A1exon26	TH	c.1712 A→C	p.Lys571Thr	Heterozygous change in 1/78 individuals who is also compound heterozygous for Val1985Met in COL6A3, no confirmatory data	BM	114
COL6A2exon3	N1	c.316 G→A	p.Glu106Lys	Heterozygous change in 2/76 individuals, no confirmatory data	BM	114
COL6A2exon6	TH	c.811 G→A	p.Gly271Ser	Heterozygous change in one three generation family	BM	116
COL6A2intron24	TH/C1	c.1817-3 C→G	p.Cys605_Asp606insGSEVSPVPPDDPATPR	Insertion of part of intron24; heterozygous change in 1/78 individuals	BM	114 *
COL6A2exon25	TH/C1	c.1861 G→A	p.Asp621Asn	Heterozygous change in one large three generation family, not present in 190 control chromosomes	AD LGMD	23
COL6A2intron25	C1	c.1970-3 C→A	p.Thr656_Ala698del	Missplicing with partial loss of exon26; heterozygous change in 1/77 individuals	BM	114 *
COL6A2exon26	C1	c.2098 G→A	p.Gly700Ser	Heterozygous change in 3/77 individuals (three first degree relatives), no confirmatory data	BM, 1/3 severe	114
COL6A2exon28	C2	c.2558 G→A	p.Arg853Gln	Heterozygous change in 1/75 individuals, no confirmatory data	BM	114
COL6A2exon28	C2	c.2663_2664dupAG	p.Gln889SerfsX6	Heterozygous change in 1/75 individuals	BM	¹¹⁴
COL6A3exon6	N7	c.2030 G→A	p.Arg677His	Heterozygous change in 1/79 individuals who is also compound heterozygous for Gly290Arg in TH of COL6A1	Severe BM	114
COL6A3exon7	N6	c.3040 A→G	p.Lys1014Glu	Heterozygous change in 1/79 individuals, no confirmatory data	BM	114
COL6A3exon9	N4	c.4156 G→A	p.Glu1386Lys	Heterozygous change in 1/79 individuals, no confirmatory data	BM	114
COL6A3exon10	N3	c.4399 A→G	p.Asn1467Asp	Heterozygous change in 1/79 individuals, no confirmatory data	BM	114
COL6A3exon11	N2	c.5036 G→A	p.Gly1679Glu	Heterozygous change in one large three generation family, not present in 338 control chromosomes, interferes with protein folding	BM	120
COL6A3exon11	N2	c.5036 G→A	p.Gly1679Glu	Heterozygous change in 1/79 individuals	BM	114
COL6A3exon14	N1	c.5953 G→A	p.Val1985Met	Heterozygous change in 1/79 individuals who is also compound heterozygous for Lys571Thr in COL6A1, no confirmatory data	BM	114
COL6A3exon15	TH	c.6140 G→A	p.Gly2047Asp	Heterozygous change in 2/79 individuals (first degree relatives) who are also compound heterozygous for Pro274Leu in COL6A1	BM	114
COL6A3intron15	N1/TH	c.6156+1 G→A	p.Asp2022_Lys2052del	Exon15 skipping; heterozygous change in 1/79 individuals	Severe BM	114 *
COL6A3exon16	TH	c.6166 G→A	p.Gly2056Arg	Heterozygous change in one two generation family (de novo)	BM	115
COL6A3exon17	TH	c.6239 G→A	p.Gly2080Asp	Heterozygous change in 1/79 individuals	Severe BM	114
COL6A3exon40	C3	c.8822 C→T	p.Ala2941Val	Heterozygous change in 1/79 individuals, no confirmatory data	BM	114