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Table 1. Causative variant profile of collagen VI-related dystrophy

From: Causative variant profile of collagen VI-related dystrophy in Japan

Family Gene Mono or Bi-allelic Category Domain Nucleotide change Protein change Phenotype COL6 IHC Inheritance Report
1 COL6A1 BA Missense C1 c.1879G>C
homozygous
p.G627R BM Normal Recessive Novel
2-1a COL6A1 MA Splicing N1 c.428+1G>T p.Y77_G143del BM SSCD Dominant [12]
2-2a COL6A1 MA Splicing N1 c.428+1G>T p.Y77_G143del BM Normal Dominant [12]
3 COL6A1 MA Large deletion THD c.589-7_804+490del p.E197_E285del Intermediate SSCD Dominant Novel
4 COL6A1 MA Large deletion THD c.589-7_804+490del p.E197_E285del UCMD SSCD de novo Novel
5 COL6A1 MA Large deletion THD c.765_903+26del p.P254_K301del UCMD SSCD de novo Novel
6 COL6A1 MA Glycine substitution THD c.806G>A p.G269E UCMD SSCD de novo [28]
7 COL6A1 MA Glycine substitution THD c.833G>A p.G278E Intermediate SSCD de novo [11]
8 COL6A1 MA Glycine substitution THD c.841G>A p.G281R Intermediate Normal de novo [14]
9 COL6A1 MA Small deletion THD c.845_847del p.E282del UCMD SSCD de novo Novel
10 COL6A1 MA Glycine substitution THD c.849G>A p.G284R UCMD SSCD Dominant [14]
11 COL6A1 MA Glycine substitution THD c.850G>A p.G284R UCMD SSCD de novo [14]
12 COL6A1 MA Glycine substitution THD c.850G>A p.G284R UCMD SSCD de novo [14]
13 COL6A1 MA Glycine substitution THD c.850G>A p.G284R UCMD SSCD de novo [14]
14 COL6A1 MA Glycine substitution THD c.850G>A p.G284R UCMD SSCD de novo [14]
15 COL6A1 MA Glycine substitution THD c.850G>A p.G284R UCMD SSCD de novo [14]
16 COL6A1 MA Glycine substitution THD c.859G>C p.G287R UCMD NA de novo [35]
17 COL6A1 MA Glycine substitution THD c.860G>A p.G287E UCMD SSCD de novo Novel
18 COL6A1 MA Glycine substitution THD c.868G>A p.G290R UCMD SSCD de novo [38]
19 COL6A1 MA Glycine substitution THD c.868G>A p.G290R UCMD Normal Dominant [38]
20 COL6A1 MA Glycine substitution THD c.868G>A p.G290R Intermediate SSCD de novo [38]
21 COL6A1 MA Glycine substitution THD c.868G>A p.G290R UCMD SSCD de novo [38]
22 COL6A1 MA Glycine substitution THD c.868G>A p.G290R Intermediate NA de novo [14]
23 COL6A1 MA Glycine substitution THD c.868G>A p.G290R Intermediate SSCD de novo [14]
24 COL6A1 MA Glycine substitution THD c.868G>A p.G290R UCMD SSCD de novo [14]
25 COL6A1 MA Glycine substitution THD c.868G>A p.G290R Intermediate SSCD de novo [14]
26-1b COL6A1 MA Glycine substitution THD c.877G>A p.G293R Intermediate NA Dominant [35]
26-2b COL6A1 MA Glycine substitution THD c.877G>A p.G293R Intermediate NA Dominant [35]
26-3b COL6A1 MA Glycine substitution THD c.877G>A p.G293R Intermediate NA Dominant [35]
27 COL6A1 MA Glycine substitution THD c.877G>A p.G293R UCMD SSCD de novo [35]
28 COL6A1 MA Glycine substitution THD c.877G>A p.G293R UCMD NA de novo [35]
29 COL6A1 MA Glycine substitution THD c.877G>A p.G293R Intermediate SSCD de novo [35]
30-1c COL6A1 MA Glycine substitution THD c.877G>A p.G293R BM NA Dominant [35]
30-2c COL6A1 MA Glycine substitution THD c.877G>A p.G293R BM NA Dominant [35]
31 COL6A1 MA Glycine substitution THD c.895G>A p.G299R Intermediate SSCD de novo [35]
32 COL6A1 MA Glycine substitution THD c.896G>A p.G299E Intermediate SSCD de novo [23]
33 COL6A1 MA Splicing THD c.930+189C>T p.K310_G311insTRSTAPRRPLHLEGQGQPPRHPAK UCMD SSCD de novo [20]
34 COL6A1 MA Splicing THD c.930+189C>T p.K310_G311insTRSTAPRRPLHLEGQGQPPRHPAK Intermediate SSCD de novo [20]
35 COL6A1 MA Splicing THD c.930+189C>T p.K310_G311insTRSTAPRRPLHLEGQGQPPRHPAK UCMD SSCD de novo [20]
36 COL6A1 MA Splicing THD c.930+189C>T p.K310_G311insTRSTAPRRPLHLEGQGQPPRHPAK UCMD SSCD de novo [20]
37 COL6A1 MA Splicing THD c.930+189C>T p.K310_G311insTRSTAPRRPLHLEGQGQPPRHPAK Intermediate SSCD de novo [20]
38 COL6A1 MA Splicing THD c.930+189C>T p.K310_G311insTRSTAPRRPLHLEGQGQPPRHPAK UCMD SSCD de novo [20]
39 COL6A1 MA Missense THD c.956A>G p.K319R Intermediate SSCD de novo Novel
40-1d COL6A1 MA Missense THD c.956A>G p.K319R BM SSCD Dominant Novel
40-2d COL6A1 MA Missense THD c.956A>G p.K319R BM NA Dominant Novel
41-1e COL6A1 MA Missense THD c.956A>G p.K319R BM SSCD Dominant Novel
41-2e COL6A1 MA Missense THD c.956A>G p.K319R BM NA Dominant Novel
41-3e COL6A1 MA Missense THD c.956A>G p.K319R BM NA Dominant Novel
41-4e COL6A1 MA Missense THD c.956A>G p.K319R BM NA Dominant Novel
41-5e COL6A1 MA Missense THD c.956A>G p.K319R BM NA Dominant Novel
42 COL6A1 MA Missense THD c.957G>T p.K319N UCMD SSCD de novo [7]
43 COL6A1 MA Splicing THD c.958-2A>T p.G320_K334del UCMD SSCD de novo Novel
44 COL6A1 MA Small deletion THD c.958_966del p.G320_E322del UCMD SSCD de novo [7]
45 COL6A1 MA Small deletion THD c.958_966del p.G320_E322del UCMD SSCD de novo [7]
46 COL6A1 MA Small deletion THD c.958_966del p.G320_E322del UCMD SSCD de novo [7]
47 COL6A1 MA Small deletion THD c.967_975del p.K324_G326del UCMD SSCD de novo [7]
48 COL6A1 MA Splicing THD c.1003-1G>A p.G335_D352del BM SSCD de novo [39]
49 COL6A1 MA Glycine substitution THD c.1022G>A p.G341D Intermediate SSCD de novo [2]
50-1f COL6A1 MA Glycine substitution THD c.1022G>A p.G341D BM SSCD Dominant [2]
50-2f COL6A1 MA Glycine substitution THD c.1022G>A p.G341D BM NA Dominant [2]
51 COL6A1 MA Glycine substitution THD c.1022G>T p.G341V BM Normal Dominant [18]
52 COL6A1 MA Splicing THD c.1056+1G>A p.G335_D352del Intermediate SSCD de novo [30]
53 COL6A1 MA Splicing THD c.1056+1G>A p.G335_D352del Intermediate SSCD de novo [30]
54 COL6A1 MA Splicing THD c.1056+1G>A p.G335_D352del Intermediate SSCD de novo [30]
55-1g COL6A1 MA Splicing THD c.1056+1G>A p.G335_D352del BM Normal Dominant [30]
55-2g COL6A1 MA Splicing THD c.1056+1G>A p.G335_D352del BM NA Dominant [30]
56-1h COL6A1 MA Splicing THD c.1056+1G>A p.G335_D352del BM SSCD Dominant [30]
56-2h COL6A1 MA Splicing THD c.1056+1G>A p.G335_D352del BM NA Dominant [30]
57 COL6A1 MA Splicing THD c.1056+3A>C p.G335_D352del BM SSCD de novo [32]
58 COL6A1 MA Glycine substitution THD c.1138G>A p.G380R UCMD SSCD de novo Novel
59 COL6A1 MA Glycine substitution THD c.1255G>A p.G419S BM Normal Dominant Novel
60 COL6A1 MA Splicing THD c.1461+4A>G p.G467_E487del UCMD Normal de novo [28]
61 COL6A2 BA Splicing
Splicing
THD
THD-C1
c.1270-1G>C
c.1771-3C>G
p.G424_K444del
p.G591fs
UCMD CD Recessive [7]
62 COL6A2 BA Splicing THD c.1572+1G>C
homozygous
p.G508_P524del UCMD CD Recessive [7]
63 COL6A2 BA Splicing
Small deletion
THD
C1
c.1770+5G>A
c.2267_2272del
p.G562_T573del
p.A756_I757del
UCMD SSCD Recessive [13]
[13]
64 COL6A2 BA Splicing
Small deletion
THD-C1
C1
c.1771-2A>T
c.2279_2280del
p.G591fs
p.D761fs
BM CD Recessive [7]
65-1i COL6A2 BA Missense
Missense
C1
C2
c.2093C>T
c.2927T>C
p.A698V
p.L976S
BM SSCD Recessive Novel
Novel
65-2i COL6A2 BA Missense
Missense
C1
C2
c.2093C>T
c.2927T>C
p.A698V
p.L976S
BM NA Recessive Novel
Novel
66 COL6A2 BA PTC
Missense
C2 c.2386A>T
c.2584C>T
p.K796X
p.R862W
UCMD SSCD Recessive Novel,
[40]
67 COL6A2 BA Small deletion C1-C2
THD
c.2678_2700del
homozygous
p.P893fs UCMD CD Recessive [7]
68 COL6A2 BA Missense
Small deletion
N1 c.2488C>T
c.1487_1512del
p.R830W
p.R498fs
BM SSCD Recessive [5, 41]
69 COL6A2 MA Missense N1 c.167G>A p.S56N BM SSCD de novo Novel
70 COL6A2 MA Missense THD c.565G>A p.A189T BM Normal de novo Novel
71 COL6A2 MA Splicing THD c.736-1G>A p.C246_K267del UCMD SSCD de novo [42]
72 COL6A2 MA Glycine substitution THD c.785G>T p.G262V BM SSCD Dominant Novel
73 COL6A2 MA Splicing THD c.801+1G>T p.C246_K267del UCMD SSCD de novo [16]
74 COL6A2 MA Splicing THD c.801+2T>C p.C246_K267del UCMD SSCD de novo [3]
75 COL6A2 MA Glycine substitution THD c.802G>T p.G268C UCMD SSCD de novo Novel
76 COL6A2 MA Glycine substitution THD c.812G>A p.G271D Intermediate SSCD de novo [7]
77 COL6A2 MA Glycine substitution THD c.820G>A p.G274S Intermediate SSCD Dominant Novel
78 COL6A2 MA Glycine substitution THD c.821G>A p.G274D Intermediate SSCD de novo Novel
79 COL6A2 MA Glycine substitution THD c.838G>C p.G280R Intermediate SSCD de novo Novel
80 COL6A2 MA Glycine substitution THD c.839G>A p.G280D BM SSCD de novo Novel
81 COL6A2 MA Splicing THD c.855+1G>A p.G268_Q285del UCMD SSCD de novo [35]
82 COL6A2 MA Splicing THD c.856-2A>G p.G286_K309del UCMD SSCD Dominant [7]
83-1j COL6A2 MA Splicing THD c.856-2A>G p.G286_K309del BM SSCD Dominant [7]
83-2j COL6A2 MA Splicing THD c.856-2A>G p.G286_K309del BM NA Dominant [7]
84 COL6A2 MA Glycine substitution THD c.866G>A p.G289D BM SSCD Dominant [8]
85 COL6A2 MA Glycine substitution THD c.875G>T p.G292V UCMD SSCD de novo [7]
86 COL6A2 MA Glycine substitution THD c.893G>A p.G298E UCMD SSCD de novo Novel
87 COL6A2 MA Large deletion THD c.900+102_1000-43del p.G301_K333del UCMD SSCD de novo Novel
88 COL6A2 MA Glycine substitution THD c.901G>T p.G301C UCMD SSCD de novo [7]
89 COL6A2 MA Glycine substitution THD c.902G>T p.G301V Intermediate SSCD de novo Novel
90 COL6A2 MA Glycine substitution THD c.902G>A p.G301D UCMD SSCD de novo [7]
91 COL6A2 MA Glycine substitution THD c.902G>A p.G301D UCMD SSCD de novo [7]
92 COL6A2 MA Glycine substitution THD c.911G>T p.G304V BM SSCD de novo Novel
93 COL6A2 MA Missense THD c.943G>A p.D315N UCMD SSCD de novo Novel
94 COL6A2 MA Missense THD c.943G>A p.D315N BM Normal Dominant Novel
95 COL6A2 MA Splicing THD c.950_954+8del p.G310_K318del UCMD SSCD de novo Novel
96 COL6A2 MA Splicing THD c.955-2A>C p.G319_K333del UCMD NA de novo Novel
97 COL6A2 MA Splicing THD c.955-2A>G p.G319_K333del UCMD SSCD de novo [14]
98 COL6A2 MA Splicing THD c.955-2A>G p.G319_K333del Intermediate SSCD de novo [14]
99-1k COL6A2 MA Splicing THD c.1053+1G>A p.G334_ R351del BM SSCD Dominant Novel
99-2k COL6A2 MA Splicing THD c.1053+1G>A p.G334_ R351del BM NA Dominant Novel
100 COL6A2 MA Glycine substitution THD c.1664G>A p.G555E UCMD SSCD de novo Novel
101 COL6A2 MA Small deletion C1 c.1858_1860del p.I620del UCMD SSCD de novo Novel
102 COL6A2 MA Missense C1 c.1861G>A p.D621N BM SSCD Dominant [2]
103 COL6A2 MA Missense C1 c.1870G>A p.E624K BM Normal de novo [42]
104 COL6A2 MA Missense C1 c.2192C>G p.T731R BM SSCD de novo Novel
105 COL6A2 MA Glycine substitution C1 c.2197G>A p.G733R BM SSCD de novo [43]
106 COL6A2 MA Missense C1 c.2271C>G p.I757M BM Normal de novo Novel
107 COL6A2 MA Small deletion C2 c.2741_2743del p.F914del BM SSCD de novo Novel
108 COL6A2 MA Missense C2 c.2978G>A p.R993H BM SSCD de novo Novel
109 COL6A3 BA Small deletion
Small deletion
N1
C3
c.5692delG
c.8737delG
p.V1898fs
p.A2913fs
UCMD CD Recessive [7]
110 COL6A3 MA Missense N1 c.5525G>A p.G1842E BM SSCD Dominant [12]
111 COL6A3 MA Missense N1 c.5525G>A p.G1842E BM SSCD Dominant [12]
112-1l COL6A3 MA Missense N1 c.5525G>A p.G1842E BM NA Dominant [12]
112-2l COL6A3 MA Missense N1 c.5525G>A p.G1842E BM NA Dominant [12]
113 COL6A3 MA Missense THD c.5525G>A p.G1842E BM Normal Dominant [12]
114 COL6A3 MA Splicing THD c.6157-2A>G p.G2053_P2070del UCMD SSCD de novo [7]
115 COL6A3 MA Splicing THD c.6157-2A>G p.G2053_P2070del Intermediate SSCD de novo [7]
116 COL6A3 MA Glycine substitution THD c.6158G>T p.G2053V UCMD SSCD de novo [15]
117-1m COL6A3 MA Missense THD c.6199G>A p.E2067K BM SSCD Dominant [28]
117-2m COL6A3 MA Missense THD c.6199G>A p.E2067K BM Normal Dominant [28]
118 COL6A3 MA Splicing THD c.6210+1G>A p.G2053_P2070del UCMD SSCD de novo [25]
119 COL6A3 MA Splicing THD c.6210+1G>A p.G2053_P2070del UCMD SSCD de novo [25]
120 COL6A3 MA Splicing THD c.6210+1G>A p.G2053_P2070del UCMD SSCD de novo [25]
121 COL6A3 MA Splicing THD c.6210+1G>A p.G2053_P2070del UCMD SSCD de novo [25]
122 COL6A3 MA Splicing THD c.6210+1G>A p.G2053_P2070del Intermediate SSCD de novo [25]
123 COL6A3 MA Splicing THD c.6210+1G>A p.G2053_P2070del UCMD SSCD de novo [25]
124 COL6A3 MA Splicing THD c.6210+2T>A p.G2053_P2070del UCMD SSCD de novo [7]
125 COL6A3 MA Glycine substitution THD c.6212G>A p.G2071D UCMD SSCD de novo [8]
126 COL6A3 MA Glycine substitution THD c.6247G>T p.G2083C Intermediate SSCD de novo Novel
127 COL6A3 MA Splicing THD c.6309G>A p.G2095_K2103del UCMD SSCD de novo Novel
128 COL6A3 MA Splicing THD c.6309+1G>A p.G2095_K2103del UCMD SSCD de novo [35]
129 COL6A3 MA Splicing THD c.6310-2A>G p.G2104_D2118del UCMD SSCD de novo Novel
130 COL6A3 MA Splicing THD c.6283-1G>Tn c.6310-2A>Tn p.G2095_K2103delinsNSFLYLPVRLIPSL Intermediate SSCD de novo [37, 44]
  1. IHC, immunohistochemistry; MA, mono-allelic; BA, bi-allelic; PTC, premature stop codon; THD, triple helical domain; NA, not available; UCMD, Ullrich congenital muscular dystrophy; BM, Bethlem myopathy; CD, complete deficiency; SSCD, sarcolemma-specific collagen VI deficiency
  2. abrothers; b26-2 and 26-3 are the sons of 26-1; d40-2 is the father of 40-1; e41-2 and 41-3 are the cousins of 41-1, and 41-4 and 41-5 are the sons of 41-2; fsisters; g55-2 is the son of 55-1; h56-2 is the daughter of 55-1; ibrothers; j83-2 is the mother of 83-1; kbrothers; lbrothers; m117-2 is the mother of 117-1; ntwo variants on one allele. We used the following transcripts: COL6A1, NM_001848; COL6A2, NM_001849; COL6A3, NM_004369)