Putative mutations and probable polymorphisms found in COL6A2
| COL6A2 | Location | NM_001849 nucleotide change | Predicted change | Frequency | Previously reported | ||
|---|---|---|---|---|---|---|---|
| *Three affected first degree relatives; †annotated as A and Asn in GenBank reference sequence; ‡present as additional change in patient with proven mutation; §reported by Pan et al36; ¶registered in NCBI dbSNP database. | |||||||
| PTC, premature termination codon. | |||||||
| Putative mutations | Exon 3 | c.316 | G→A | Glu106Lys | Heterozygous change in 2/76 individuals | ||
| Exon 3 | c.688_689 | dupAC | 9 non-syn AA followed by PTC | Heterozygous change in 1/77 individuals | |||
| Exon 6 | c.847 | G→A | Gly283Arg | Heterozygous change in 1/78 individuals | |||
| Intron 9 | c.955−2 | A→G | Splice acceptor CAG to CGG | Heterozygous change in 1/78 individuals | |||
| Exon 18 | c.1493 | G→A | Arg498His | Heterozygous change in 1/78 individuals | |||
| Exon 20 | c.1590 | G→C | Gly531Arg | Homozygous change in 1/78 individuals | |||
| Intron 24 | c.1817−3 | C→G | Splice acceptor CAG to GAG | Heterozygous change in 1/78 individuals | |||
| Intron 25 | c.1970−3 | C→A | Splice acceptor CAG to AAG | Heterozygous change in 1/77 individuals | |||
| Exon 26 | c.2098 | G→A | Gly700Ser | Heterozygous change in 3/77 individuals* | |||
| Exon 26 | c.2319 | C→G | Tyr773PTC | Heterozygous change in 1/78 individuals | |||
| Exon 26 | c.2329 | T→C | Cys777Arg | Homozygous change in 1/78 individuals | |||
| Exon 26 | c.2351 | G→A | Arg784His | Heterozygous change in 1/78 individuals | |||
| Intron 26 | c.2423−2 | A→G | Splice acceptor CAG to CGG | Heterozygous change in 1/78 individuals | |||
| Exon 27 | c.2455_2461+37delins33 | Involves splice donor site | Heterozygous change in 1/78 individuals | ||||
| Exon 28 | c.2558 | G→A | Arg853Gln | Heterozygous change in 1/75 individuals | |||
| Exon 28 | c.2626 | C→A | Arg876Ser | Homozygous change in 1/75 individuals | |||
| Exon 28 | c.2663_2664 | dupAG | 6 non-syn AA followed by PTC | Heterozygous change in 1/75 individuals | |||
| Probable polymorphisms | Exon 3 | c.228 | C→T | Synonymous Tyr96Tyr | 1/152 chromosomes | ||
| Exon 3 | c.663 | C→T | Synonymous Pro221Pro | 17/154 chromosomes | |||
| Exon 3 | c.679 | G→A | Non-synonymous Asp227Asn | 3/154 chromosomes† | |||
| Intron 3 | c.714+9 | C→T | 5/154 chromosomes | ||||
| Intron 4 | c.735+34 | C→T | 1/156 chromosomes | ||||
| Intron 8 | c.928−19 | C→T | 70/156 chromosomes | ¶ | |||
| Intron 12 | c.1116+22 | C→T | 1/156 chromosomes | ||||
| Intron 12 | c.1116+32 | G→A | 72/156 chromosomes | ||||
| Exon 14 | c.1196 | A→G | Non-synonymous Asn399Ser | 33/156 chromosomes | ¶ | ||
| Intron 14 | c.1269+32 | C→T | 1/156 chromosomes | ||||
| Intron 15 | c.1332+26 | G→A | 30/156 chromosomes | ¶ | |||
| Intron 15 | c.1333−8 | T→C | 35/156 chromosomes | ||||
| Exon 17 | c.1437 | T→C | Synonymous Ala479Ala | 1/156 chromosomes | |||
| Exon 18 | c.1466 | G→A | Non-synonymous Arg489Gln | 1/156 chromosomes | § | ||
| Intron 18 | c.1521+21 | A→G | 27/156 chromosomes | ||||
| Intron 18 | c.1522−52 | C→T | 1/156 chromosomes | ||||
| Intron 18 | c.1522−36 | T→C | 28/156 chromosomes | ||||
| Exon 19 | c.1552 | C→T | Non-synonymous Pro518Ser | 3/156 chromosomes‡ | |||
| Intron 19 | c.1573−32 | C→T | 17/156 chromosomes | ||||
| Intron 20 | c.1609−10 | C→T | 27/156 chromosomes | ||||
| Intron 21 | c.1671+10 | G→A | 30/156 chromosomes | ¶ | |||
| Intron 21 | c.1672−37 | G→T | 10/142 chromosomes | ||||
| Intron 21 | c.1672−24 | C→G | 70/150 chromosomes | ¶ | |||
| Intron 22 | c.1734+35 | A→G | 16/148 chromosomes | ||||
| Intron 22 | c.1735−30 | A→G | 16/150 chromosomes | ||||
| Intron 23 | c.1770+4 | G→A | 7/150 chromosomes | ||||
| Intron 23 | c.1771−34 | G→A | 1/156 chromosomes | ||||
| Intron 23 | c.1771−25 | G→A | 31/156 chromosomes | ¶ | |||
| Intron 24 | c.1816+17 | delG | 6/156 chromosomes | ||||
| Intron 24 | c.1817−33 | C→T | 7/154 chromosomes | ¶ | |||
| Intron 24 | c.1817−9 | dupC | 18/156 chromosomes | ||||
| Intron 25 | c.1970−24 | C→T | 1/154 chromosomes | ||||
| Intron 25 | c.1970−23 | G→C | 9/154 chromosomes | ||||
| Intron 25 | c.1970−9 | G→A | 1/156 chromosomes | ||||
| Exon 26 | c.2039 | G→A | Non-synonymous Arg680His | 72/154 chromosomes | § | ||
| Exon 26 | c.2094 | G→A | Synonymous Ala698Ala | 68/154 chromosomes | |||
| Exon 26 | c.2097 | C→T | Synonymous Gly699Gly | 68/154 chromosomes | |||
| Exon 26 | c.2163 | G→A | Synonymous Gln721Gln | 1/156 chromosomes | |||
| Exon 26 | c.2170 | C→T | Non-synonymous Arg724Cys | 1/156 chromosomes‡ | |||
| Exon 26 | c.2184 | G→A | Synonymous Val728Val | 61/154 chromosomes | ¶ | ||
| Exon 26 | c.2411 | T→G | Non-synonymous Val804Gly | 1/156 chromosomes‡ | |||
| Intron 26 | c.2423−35 | C→A | 19/156 chromosomes | ||||
| Intron 26 | c.2423−17 insGGCCCGGCCCGGCCC | 19/156 chromosomes | |||||
| Intron 27 | c.2462−35 | T→C | 51/130 chromosomes | ||||
| Exon 28 | c.2697 | G→T | Synonymous Thr899Thr | 4/150 chromosomes | |||
| Exon 28 | c.2724 | A→G | Synonymous Thr908Thr | 11/148 chromosomes | |||
| Exon 28 | c.2769 | C→T | Synonymous His923His | 1/152 chromosomes | |||
| Exon 28 | c.2803 | G→A | Non-synonymous Gly935Arg | 21/148 chromosomes | § | ||
| Exon 28 | c.2979 | C→T | Synonymous Arg993Arg | 20/150 chromosomes | ¶ | ||