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. 2010 Feb 24;18(8):872–880. doi: 10.1038/ejhg.2010.23

Table 1. Summary of 77 different COL2A1 mutations identified in a series of 100 affected individuals.

Patient ID Age (years) Score Exon/intron cDNA Protein Mutation type Mutation effect
1 46 15   del COL2A1 del COL2A1 Large deletion Deletion[19]
2 54 13 02 c.211_233dup p.Glu79ThrfsX2 Duplication Frameshift
3 58 17 02 c.264_276del p.Cys89SerfsX24 Deletion Frameshift
4 4 6 IVS 04 c.342+1G>A p.Asp114_Ile115insIleSerAlaAsnTyrSerHisProValLeuGlnLeuLeuX14 RNA processing Insertion with premature stop codon
5 42 17 IVS 06 c.430-1G>C p.Gly144ValfsX54; p.Gln125_Gly126insArgGluGlyGluAsnLeuPheLeuArgProPheLeuAlaAlaGlnValThrAspLeuX20; p.Lys143_Asn178delExon7a RNA processing Frameshift; insertion with premature stop codon; exon deletion
6 6 6 07 c.492delT p.Gly165ValfsX34 Deletion Frameshift
               
7 3 6 09 c.625C>T p.Arg209X Nonsense Premature stop codon
8 6 11 09 c.625C>T p.Arg209X Nonsense Premature stop codon
9 19 13 09 c.625C>T p.Arg209X Nonsense Premature stop codon
10 12 14 09 c.625C>T p.Arg209X Nonsense Premature stop codon
11 22 15 09 c.647G>A p.Gly216Asp Missense Glycine substitution
12 8 8 IVS 09 c.654+1G>A ND RNA processing ND
13 34 10 10 c.655G>C p.Gly219Arg Missense Glycine substitution
14 27 14 10 c.665G>T p.Gly222Val Missense Glycine substitution
15 24 11 11 c.744delT p.Gly249GlufsX59 Deletion Frameshift
16 45 18 12 c.793delG p.Glu265fsX43 Deletion Frameshift
17 37 14 IVS 13 c.870+5 G> A ND RNA processing ND
18 30 9 IVS 14 c.925-1G>A p.Lys308_Gly309insGluPheAlaGlyGlyGlnGluTrpGlyProArgHisX13 RNA processing Insertion with premature stop codon
19 67 12 17 c.1030C>T p.Arg344X Nonsense Premature stop codon
20 9 9 17 c.1030C>T p.Arg344X Nonsense Premature stop codon
21 62 21 IVS 18 c.1123-1G>A p.Gly375ValfsX253 RNA processing Frameshift
22 6 7 19 c.1172delC p.Pro391LeufsX238 Deletion Frameshift
23 11 11 IVS 19 c.1221+1G>A ND RNA processing ND
24 43 12 21 c.1311_1313delinsCA p.Gly438ThrfsX191 Deletion/insertion Frameshift
25 33 12 23 c.1428_1429insTGGC p.Gly477TrpfsX12 Insertion Frameshift
26 13 8 23 c.1475G>A p.Gly492Asp Missense Glycine substitution
27 40 13 25 c.1597C>T p.Arg533X Nonsense Premature stop codon
28 10 10 25 c.1597C>T p.Arg533X Nonsense Premature stop codon
29 12 15 IVS 25 c.1680+2delGTinsAA ND RNA processing ND
30 24 10 26 c.1693C>T p.Arg565Cys Missense Arginine-to-cysteine substitution[20]
31 20 8 26 c.1693C>T p.Arg565Cys Missense Arginine-to-cysteine substitution[20]
32 9 7 26 c.1693C>T p.Arg565Cys Missense Arginine-to-cysteine substitution[20]
33 11 19 27 c.1777C>T p.Gln593X Nonsense Premature stop codon
34 14 14 27 c.1828delG p.Ala610ProfsX19 Deletion Frameshift
35 11 10 IVS 27 c.1833+1G>A ND RNA processing ND
36 36 12 IVS 27 c.1833+1G>A p.Gly609GlyfsX1 RNA processing Frameshift
37 40 14 IVS 27 c.1833+1G>A ND RNA processing ND
38 17 17 IVS 27 c.1833+1 G>A p.Gly609GlyfsX1 RNA processing Frameshift
39 14 10 IVS 28 c.1888-2A>G p.Gly630MetfsX53 RNA processing Frameshift
40 13 6 29 c.1931delC p.Pro644LeufsX144 Deletion Frameshift
41 40 19 30 c.1957C>T p.Arg653X Nonsense Premature stop codon
42 41 12 30 c.1957C>T p.Arg653X Nonsense Premature stop codon
43 4 6 IVS 32 c.2094+1G>A ND RNA processing ND
44 35 9 IVS 32 c.2095-1G>A ND RNA processing ND
45 40 8 33 c.2101C>T p.Arg701X Nonsense Premature stop codon
46 31 10 33 c.2101C>T p.Arg701X Nonsense Premature stop codon
47 8 11 IVS 33 c.2193+2T>C ND RNA processing ND
48 43 14 34 c.2257_2264delGGCGAGAG p.Glu754SerfsX13 Deletion Frameshift
49 5 5 34 c.2263_2264delAG p.Arg755GlyfsX14 Deletion Frameshift
50 9 11 35 c.2353C>T p.Arg785X Nonsense Premature stop codon
51 14 10 35 c.2353C>T p.Arg785X Nonsense Premature stop codon
52 37 7 35 c.2353C>T p.Arg785X Nonsense Premature stop codon
53 33 8 IVS 35 c.2355+5G>A ND RNA processing ND
54 38 13 IVS 35 c2355+5G>A p.Arg785_Gly786insValAsnGluCysGlyLeuLeuAspCysTrpAlaPheGlySerX15 RNA processing Insertion with premature stop codon
55 11 11 36 c.2381dupC p.Gly795TrpfsX6 Duplication Frameshift
56 5 10 36 c.2382delT p.Gly795Alafs86 Deletion Frameshift
57 41 12 36 c.2382delT p.Gly795Alafs86 Deletion Frameshift
58 14 9 38 c.2467G>T p.Glu823X Nonsense Premature stop codon
59 44 9 38 c.2493dupA p.Pro832ThrfsX11 Duplication Frameshift
60 66 13 IVS 38 c.2517+2T>G ND RNA processing ND
61 24 15 IVS 38 c.2518-1 G>A p.Gly840ValfsX41 RNA processing Frameshift
62 41 17 39 c.2588-2604delCTGG TCCTCAGGGCCCC p.Pro863LeufsX16 Deletion Frameshift
63 39 17 40 c.2659C>T p.Arg887X Nonsense Premature stop codon
64 12 12 40 c.2673dupC p.Ala895SerfsX49 Duplication Frameshift
65 33 9 40 c.2673delC p.Pro893ArgfsX135 Deletion Frameshift
66 9 14 41 c.2710C>T p.Arg904Cys Missense Arginine-to-cysteine substitution[20]
67 18 (8 at examination) 0 41 c.2710C>T p.Arg904Cys Missense Arginine-to-cysteine substitution[20]
68 70 9 41 c.2715dupT p.Gly906TrpfsX38 Duplication Frameshift
69 40 17 41 c.2719dupC p.Gly909ArgfsX35 Duplication Frameshift
70 44 9 42 c.2813delC p.Pro938LeufsX90 Deletion Frameshift
71 58 9 42 c.2839C>T p.Gln947X Nonsense Premature stop codon
72 12 10 42 c.2862C>T p.Gly954Glyb Synonymous Frameshift
73 11 8 IVS 43 c.3003+1G>A ND RNA processing ND
74 20 13 IVS 43 c.3003+5G>A p.Gly966_Ser1001del; p.Gly990GlyfsX1a RNA processing Deletion; frameshift
75 32 16 44 c.3081_3087delGACGGT insCCTGG p.Thr1028LeufsX100 Deletion/insertion frameshift
76 18 17 44 c.3106C>T p.Arg1036X Nonsense Premature stop codon
77 39 14 44 c.3106C>T p.Arg1036X Nonsense Premature stop codon
78 10 11 44 c.3106C>T p.Arg1036X Nonsense Premature stop codon
79 47 13 44 c.3106C>T p.Arg1036X Nonsense Premature stop codon
80 45 10 44 c.3106C>T p.Arg1036X Nonsense Premature stop codon
81 49 13 IVS 44 c.3111+1G>T p.Glu1033LysfsX4 RNA processing Frameshift
82 8 11 IVS 44 c.3112-1G>A p.Gly1038GlufsX92 RNA processing Frameshift
83 29 12 45 c.3137delC p.Pro1046LeufsX84 Deletion Frameshift
84 8 12 45 c.3137dupC p.Gly1047TrpfsX11 Duplication Frameshift
85 17 13 45 c.3138delT p.Gly1047AlafsX83 Deletion Frameshift
86 20 12 46 c.3228delT p.Gly1077AlafsX53 Deletion Frameshift
87 35 18 46 c.3258_3261delAGAC p.Asp1087GlufsX42 Deletion Frameshift
88 42 9 47 c.3325delC p.Gln1109ArgfsX21 Deletion Frameshift
89 18 11 48 c.3392G>C p.Gly1131Ala Missense Glycine substitution
90 8 11 50 c.3574C>T p.Arg1192X Nonsense Premature stop codon
91 47 16 50 c.3574C>T p.Arg1192X Nonsense Premature stop codon
92 40 18 50 c.3574C>T p.Arg1192X Nonsense Premature stop codon
93 42 11 51 c.3623delC p.Pro1208LeufsX19 Deletion Frameshift
94 33 12 51 c.3641dupC p.Gly1215TrpfsX38 Duplication Frameshift
               
95 41 10 51 c.3864-3865delCT p.Cys1289ProfsX3 Deletion Frameshift
96 11 10 51 c.3878G>A p.Trp1293X Nonsense Premature stop codon
97 55 12 52 c.3891_3898dupCTACTGGA p.Ile1300ThrfsX15 Duplication Frameshift
98 53 12 52 c.3903delC p.Asn1303ThrfsX9 Deletion Frameshift
99 52 17 IVS 52 c.4074+1 G>T p.Gln1238_Leu1411del; p.Trp1348CysfsX17a RNA processing Deletion; frameshift
100 8 10 IVS 53 c.4317+2T>C ND RNA processing ND
               
  Indication N-propeptide (p.26–181) – triple helical domain (p.201–1214) – C-propeptide (p.1242–1487)    

IVS, intervening sequence; ND, not determined.

Items in italics represent recurrent mutations.

Exons are numbered 1–54.

cDNA mutations are numbered starting from the first base of the start codon (ATG) of the cDNA reference sequence (GenBank accession number NM_001844).

Amino-acid mutations were numbered from the first Methionine of the α1(II) collagen chain (GenBank L10347).

Score as calculated by the proposed scoring system in Table 2.

a

Splice site mutations with multiple isoforms: see Supplementary Figure 1.

b

Synonymous mutation: see Supplementary Figure 2.