Genetic changes published for Ullrich congenital muscular dystrophy to date
| Location and domain | Nucleotide change | Predicted consequence | Comment | Phenotype | Reference | ||
|---|---|---|---|---|---|---|---|
| All published data adjusted by authors to reference sequences NM_001848 for COL6A1, NM_001849 for COL6A2 & NM_004369 for COL6A3; *plus unpublished data. | |||||||
| UCMD, Ullrich congenital muscular dystrophy. | |||||||
| COL6A1intron8 | TH | c.804+857_903+6del99 | p.Gly269_Lys301del | Deletion exon9-10; heterozygous change in one individual (de novo) | UCMD | 79 | |
| COL6A1exon9 | TH | c.841 G→A | p.Gly281Arg | Heterozygous change in 1/77 individuals who is also compound heterozygous for Arg498His in COL6A2 | UCMD | 114 | |
| COL6A1exon9 | TH | c.850 G→A | p.Gly284Arg | Heterozygous change in 2/77 individuals | UCMD | 114 | |
| COL6A1exon10 | TH | c.868 G→A | p.Gly290Arg | Heterozygous change in 2/77 individuals, one of them compound heterozygous for Arg784His in COL6A2 | Mild UCMD | 114 | |
| COL6A1intron12 | TH | c.957+1 G→A | p.Gly311_Lys319del | Exon12 skipping; heterozygous change in one individual (de novo) | UCMD | 126 | |
| COL6A1intron27 | TH | c.1776+1 G→A | p.Gly581_Asp592del | Exon27 skipping; homozygous change in 1/76 individuals (parents heterozygous) | UCMD | 114* | |
| COL6A2exon3 | N1 | c.688_689 dupAC | p.Ile231ProfsX8 | Heterozygous change in 1/77 individuals who is also compound heterozygous for complex insertion/deletion causing exon 27 skipping in COL6A2 | UCMD | 114* | |
| COL6A2intron5 | TH | c.801+631_882del81 | p.Gly268_Ile294del | Deletion exon6 and partial deletion of exon7; heterozygous change in one individual (mother mosaic carrier of genomic deletion) | UCMD | 126 | |
| COL6A2exon6 | TH | c.847 G→A | p.Gly283Arg | Heterozygous change in 1/78 individuals | UCMD | 114 | |
| COL6A2intron9 | TH | c.955-2 A→G | p.Gly319_Lys333del | Exon10 skipping; heterozygous change in 1/78 individuals | UCMD | 114 | |
| COL6A2exon13 | TH | c.1147_1151 insC | p.Glu386ArgfsX64 | Homozygous change in one individual (parents heterozygous) | UCMD | 124 | |
| COL6A2intron14 | TH | c.1270-1 G→C | p.Gly424AlafsX138 and p.Gly424ProfsX108 | Heterozygous change in one individual who is also compound heterozygous for splice change causing deletion of exon24 in COL6A2 with consequent frameshift and premature termination codon | UCMD | 125 | |
| COL6A2intron17 | TH | c.1459-2 A→G | p.Gly487_Ala495delAspfsX48 | Missplicing with partial loss of exon18; heterozygous change in 3 individuals; 2/3 are siblings and compound heterozygous for splice change causing deletion of exon24 in COL6A2 with consequent frameshift and premature termination codon (mother carrier); de novo in 1/3 individuals | UCMD | 124 | |
| COL6A2exon18 | TH | c.1487_1512del26 | p.Arg498_Pro506delGlnfsX58 | Homozygous change in one individual | UCMD | 123 | |
| COL6A2exon18 | TH | c.1493 G→A | p.Arg498His | Heterozygous change in 1/78 individuals who is also compound heterozygous for Gly281Arg in triple helix of COL6A1, no confirmatory data | UCMD | 114 | |
| COL6A2exon20 | TH | c.1590 G→C | p.Gly531Arg | Homozygous change in 1/78 individuals | UCMD | 114 | |
| COL6A2intron23 | TH | c.1770+5 G→A | p.Gly579_Thr590del | Exon23 skipping; heterozygous change in one individual who is also compound heterozygous for genomic 6bp deletion inCOL6A2 exon26 causing Ile759_Gly760del (mother carrier) | Mild UCMD | 127 | |
| COL6A2intron23 | TH/C1 | c.1771-3 C→G | p.Glu591_Cys605delThrfsX148 | Deletion exon24 causing frameshift; heterozygous change in one individual who is also compound heterozygous for splice change causing partial insertion of intron14 and consequent frameshift with premature termination codon in COL6A2 | UCMD | 125 | |
| COL6A2intron23 | TH/C1 | c.1771-1 G→A | p.Glu591_Cys605delThrfsX148 | Deletion exon24 causing frameshift; heterozygous change in two individuals (siblings) who are also compound heterozygous for splice change causing partial loss of exon18 in COL6A2 with consequent frameshift and premature termination codon (father carrier) | UCMD | 124 | |
| COL6A2exon26 | C1 | c.2274_2279del6 | p.Ile759_Gly760del | Genomic 6bp deletion; heterozygous change in one individual who is also compound heterozygous for splice change causing exon23 skipping in COL6A2 (father carrier) | Mild UCMD | 127 | |
| COL6A2exon26 | C1 | c.2319 C→G | p.Tyr773X | Heterozygous change in 1/78 individuals, who is also compound heterozygous for splice change predicted to cause exon27 skipping in COL6A2 | UCMD | 114 | |
| COL6A2exon26 | C1 | c.2329 T→C | p.Cys777Arg | Homozygous change in 1/78 individuals, no confirmatory data | UCMD | 114 | |
| COL6A2exon26 | C1 | c.2351 G→A | p.Arg784His | Heterozygous change in 1/78 individuals, who is also compound heterozygous for Gly290Arg in triple helix of COL6A1 | Mild UCMD | 114 | |
| COL6A2intron26 | C1/C2 | c.2423-2 A→G | p.Asp808_Thr820del | Exon27 skipping; heterozygous change in 1/78 individuals, who is also compound heterozygous for Tyr773X in COL6A2 | UCMD | 114 | |
| COL6A2exon27 | C1/C2 | c.2455_2461+37 del46ins33 | p.Asp808_Thr820del | Exon27 skipping; heterozygous change in 1/78 individuals, who is also compound heterozygous for frameshifting duplication in exon3 of COL6A2 causing premature termination codon (father carrier) | UCMD | 114* | |
| COL6A2exon28 | C2 | c.2510 T→C | p.Leu837Pro | Heterozygous change in one individual also compound heterozygous for Asn897del (mother carrier) | UCMD | 126 | |
| COL6A2exon28 | C2 | c.2626 C→A | p.Arg876Ser | Homozygous change in 1/75 individuals, who is also compound heterozygous for Arg1395Gln and Asp1674Asn in COL6A3, no confirmatory data | UCMD | 114 | |
| COL6A2exon28 | C2 | c.2689_2691del3 | p.Asn897del | Heterozygous change in one individual also compound heterozygous for Leu837Pro (father carrier) | UCMD | 126 | |
| COL6A3exon5 | N8 | c.1393 C→T | p.Arg465X | Homozygous change in one individual, N8 subject to alternative splicing (parents heterozygous) | Mild UCMD | 122 | |
| COL6A3exon8 | N5 | c.3191 G→A | p.Arg1064Gln | Heterozygous change in 1/79 individuals, no confirmatory data | UCMD | 114 | |
| COL6A3exon9 | N4 | c.4184 G→A | p.Arg1395Gln | Heterozygous change in 1/79 individuals, who is also compound heterozygous for Asp1674Asn in COL6A3 and homozygous for Arg876Ser in COL6A2, no confirmatory data | UCMD | 114 | |
| COL6A3exon11 | N2 | c.5020 G→A | p.Asp1674Asn | Heterozygous change in 1/79 individuals, who is also compound heterozygous for Arg1395Gln in COL6A3 and homozygous for Arg876Ser in COL6A2, no confirmatory data | UCMD | 114 | |
| COL6A3exon16 | TH | c.6157-9_6177del30 | p.Gly2053_Pro2070del | Exon16 skipping; heterozygous change in 1/78 individuals | UCMD | 114 | |
| COL6A3intron16 | TH | c.6210+1 G→A | p.Gly2053_Pro2070del | Exon16 skipping; heterozygous change in 3/78 individuals | UCMD | 114 | |
| COL6A3intron16 | TH | c.6210+1 G→A | p.Gly2053_Pro2070del | Exon16 skipping; heterozygous change in one individual (de novo) | UCMD | 126 | |
| COL6A3exon27 | TH | c.6816 G→A | p.Gly2252_Lys2272del | Exon27 skipping; homozygous change in 1/79 individuals (parents heterozygous) | UCMD | 114* | |
| COL6A3intron29 | TH | c.6930+5 A→G | p.Gly2294_Lys2310del | Exon29 skipping; homozygous change in three individuals (siblings, parents heterozygous) | UCMD | 122 | |
| COL6A3exon31 | TH | c.7024 C→T | p.Arg2342X | Homozygous change in one individual (parents heterozygous) | UCMD | 122 | |