Putative mutations and probable polymorphisms found in COL6A1
| COL6A1 | Location | NM_001848 nucleotide change | Predicted change | Frequency | Previously reported | |
|---|---|---|---|---|---|---|
| *Two affected first degree relatives; †present in only one of two affected first degree relatives in a pedigree of autosomal dominant inheritance; ‡reported by Scacheri et al20 as Gly341Asp; §first reported by Lamande et al44 and then by Pan et al36 who provided patient #71 as a positive control; ¶reported by Pan et al36 as Ser889Leu; **registered in the NCBI dbSNP database. | ||||||
| Putative mutations | Exon 3 | c.347 | G→A | Ser116Asn | Heterozygous change in 3/54 individuals | |
| Exon 9 | c.821 | C→T | Pro274Leu | Heterozygous change in 2/77 individuals* | ||
| Exon 9 | c.841 | G→A | Gly281Arg | Heterozygous change in 1/77 individuals | ||
| Exon 9 | c.850 | G→A | Gly284Arg | Heterozygous change in 2/77 individuals | ||
| Exon 10 | c.868 | G→A | Gly290Arg | Heterozygous change in 4/77 individuals | ||
| Intron 13 | c.1003−3 | C→A | Splice acceptor | Heterozygous change in 1/78 individuals | ||
| CAG to AAG | ||||||
| Exon 14 | c.1022 | G→T | Gly341Val | Heterozygous change in 1/78 individuals | ‡ | |
| Intron 14 | c.1056+1 | G→A | Splice donor | Heterozygous change in 4/78 individuals* | § | |
| GTA to ATA | ||||||
| Exon 26 | c.1712 | A→C | Lys571Thr | Heterozygous change in 1/78 individuals | ||
| Intron 27 | c.1776+1 | G→A | Splice donor | Homozygous change in 1/76 individuals | ||
| GTA to ATA | ||||||
| Probable polymorphisms | Exon 1 | c.66 | G→A | Synonymous Glu22Glu | 1/92 chromosomes | |
| Intron 3 | c.428+14 | G→A | 19/105 chromosomes | ** | ||
| Intron 3 | c.429−19 | G→A | 42/154 chromosomes | |||
| Intron 4 | c.588+13 | A→C | 35/154 chromosomes | |||
| Intron 8 | c.805−36 | G→A | 2/154 chromosomes | |||
| Intron 9 | c.859−19 | G→A | 23/152 chromosomes | ** | ||
| Intron 10 | c.903+14 | C→A | 42/154 chromosomes | |||
| Exon 15 | c.1095 | C→T | Synonymous | 75/156 chromosomes | ** | |
| Gly365Gly | ||||||
| Intron 19 | c.1335+27 | C→A | 17/156 chromosomes | ** | ||
| Intron 20 | c.1398+28 | G→A | 1/156 chromosomes | |||
| Intron 20 | c.1399−32 | C→T | 75/158 chromosomes | ** | ||
| Intron 21 | c.1461+18 | A→C | 62/158 chromosomes | |||
| Intron 21 | c.1462−36 | A→G | 43/156 chromosomes | ** | ||
| Intron 22 | c.1524+16 | G→A | 1/158 chromosomes | |||
| Intron 22 | c.1524+19 | G→C | 17/158 chromosomes | ** | ||
| Intron 22 | c.1524+27 | A→G | 1/158 chromosomes | |||
| Intron 25 | c.1674−16 | C→T | 1/154 chromosomes | |||
| Intron 28 | c.1814−6 | C→G | 3/146 chromosomes | |||
| Intron 29 | c.1823−31 | C→T | 5/156 chromosomes | |||
| Exon 30 | c.1950 | G→A | Synonymous | 2/156 chromosomes | ||
| Leu650Leu | ||||||
| Intron 30 | c.1956+15 | C→T | 76/156 chromosomes | |||
| Intron 30 | c.1957−11 | C→T | 44/152 chromosomes | |||
| Intron 30 | c.1957−5 | C→T | 3/152 chromosomes | |||
| Intron 31 | c.2067−10 | T→C | 1/154 chromosomes | |||
| Exon 32 | c.2130 | G→A | Synonymous | 1/154 chromosomes | ||
| Thr710Thr | ||||||
| Intron 32 | c.2251−29 | T→C | 61/148 chromosomes | |||
| Intron 33 | c.2434+15 | G→A | 11/140 chromosomes | ** | ||
| Intron 33 | c.2434+20 | G→A | 46/148 chromosomes | |||
| Exon 35 | c.2549 | G→A | Non-synonymous | 37/108 chromosomes | ** | |
| Arg850His | ||||||
| Exon 35 | c.2622 | G→A | Synonymous | 1/114 chromosomes | ||
| Ala874Ala | ||||||
| Exon 35 | c.2643 | C→T | Non-synonymous | 1/112 chromosomes† | ||
| Thr881Met | ||||||
| Exon 35 | c.2667 | G→A | Synonymous | 39/110 chromosomes | ** | |
| Ala889Ala | ||||||
| Exon 35 | c.2669 | C→T | Non-synonymous | 32/104 chromosomes | ¶ | |
| Ser890Leu | ||||||
| Exon 35 | c.2796 | C→T | Synonymous | 40/112 chromosomes | ** | |
| Ser932Ser | ||||||