From: Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns
Identifiera | DNA mutationb | Genotypec | predicted consequence mRNA or protein leveld | Interpretation |
---|---|---|---|---|
DT | CUBN c.250C>T | hom | p.Gln84* | IGS |
MGA47 | CUBN c.252+1G>A & del ~90 kb proximal of 5'-end to Intron 28 | hom | splice site mutation & partial gene deletion | IGS |
Fam SA | CUBN c.434G>A | hom | p.Gly145Gln | IGS |
ZX-1 | CUBN c.434G>A | hom | p.Gly145Gln | IGS |
MGA57 | CUBN c.489G>A & c.1530G>A | comp het | c.489_490ins137bp; p.Gly164fs & Exon 13 skipping; p.Val473fs | IGS |
Norge 1 | CUBN c.673T>A | hom | p.Cys225Ser | IGS |
MGA53 | CUBN c.889C>T & c.1010C>T | comp het | p.Gln297* & p.Pro337Leu | IGS |
MGA1 | CUBN c.1010C>T & c.2673C>A | comp het | p.Pro337Leu & p.Cys891* | IGS |
MGA20 | CUBN c.1010C>T & del >150 kb proximal of 5'-end to ~150 kb distal of 3'-end | comp het | p.Pro337Leu & complete gene deletion | IGS |
MGA29 | CUBN c.1436C>G & del >150 kb proximal of 5'-end to >160 kb distal of 3'-end | comp het | p.Leu479* & complete deletion | IGS |
HS98 | CUBN c.1526delG & c.1865delC | comp het | p.Gly509fs & p.Thr621fs | IGS |
MGA34 | CUBN c.1838delG & c.3890C>T | comp het | p.Gly613fs & p.Pro1297Leu | IGS |
KT | CUBN c.1951C>T | hom | p.Arg651* | IGS |
Taiwan 1 | CUBN c.1951C>G & ? | comp het | p.Arg651Gly (rs182512508) & ? | IGS |
MGA11 | CUBN c.2068A>G & c.3330-439C>G | comp het | p.Ile690Val & aberrant splicing | IGS |
MGA66 | CUBN c.2486C>T & ? | comp het | p.Ser829Leu & ? | IGS |
MGA76 | CUBN c.2511_2529del19bp & c.4168G>A | comp het | p.Pro837fs & p.Gly1390Ser | IGS |
MGA3 | CUBN c.2594G>A | hom | p.Ser865Asn | IGS |
MGA43 | CUBN c.2594G>A & ? | comp het | p.Ser865Asn & ? | IGS |
MT2 | CUBN c.2594G>A & c.3749C>T | comp het | p.Ser865Asn & p.Ser1250Phe | IGS |
4655-2590 | CUBN c.2614_2615delGA | hom | p.Asp872fs | IGS |
MGA78 | CUBN c.2614_2615delGA | hom | p.Asp872fs | IGS |
MGA56 | CUBN c.2949C>A | hom | p.Tyr983* | IGS |
MGA14 | CUBN c.3056C>G | hom | p.Ser1019* | IGS |
MGA26 | CUBN c.3096delT & ? | comp het | p.Thr1032* & ? | IGS |
MGA7 | CUBN c.3300-439C>G | hom | aberrant splicing | IGS |
RL02 | CUBN c.3577T>G | hom | p.Trp1193Gly | IGS |
FM1(20 cases) | CUBN c.3890C>T | hom | p.Pro1297Leu | IGS |
AT01 | CUBN c.3890C>T | hom | p.Pro1297Leu | IGS |
MGA17 | CUBN c.3890C>T | hom | p.Pro1297Leu | IGS |
MGA72 | CUBN c.3890C>T | hom | p.Pro1297Leu | IGS |
MGA65 | CUBN c.3999C>A & ? | comp het | p.Cys1333* & ? | IGS |
KA95 | CUBN c.4115C>G | hom | p.Thr1372Arg | IGS |
MGA2 | CUBN c.4115C>G | hom | p.Thr1372Arg | IGS |
Fam A | AMN c.14delG | hom | p.Gly5fs | IGS |
Fam C | AMN c.14delG | hom | p.Gly5fs | IGS |
Fam D | AMN c.14delG | hom | p.Gly5fs | IGS |
Norge 2 | AMN c.14delG | hom | p.Gly5fs | IGS |
MGA12 | AMN c.43+1G>T & c.701G>T | comp het | splice site mutation & p.Cys234Phe | IGS |
MGA88 | AMN c.43+4A>G & c.100delG | comp het | splice site mutation & p.Ala34fs | IGS |
MGA5 | AMN c.44-3C>G | hom | splice site mutation | IGS |
Fam K | AMN c.122C>T | hom | p.Thr41Ile | IGS |
MGA51 | AMN c.122C>T & c.1118_1119insCGCT | comp het | p.Thr41Ile & p.Leu374fs | IGS |
MGA77 | AMN c.176T>C | hom | p.Leu59Pro | IGS |
FT | AMN c.208-1G>C | hom | splice site mutation | IGS |
Fam M | AMN c.208-2A>G | hom | Exon 4 skipping | IGS |
CT | AMN c.208-2A>G | hom | Exon 4 skipping | IGS |
ET | AMN c.208-2A>G | hom | Exon 4 skipping | IGS |
MT | AMN c.208-2A>G | hom | Exon 4 skipping | IGS |
Jor 8.7 | AMN c.208-2A>G | hom | Exon 4 skipping | IGS |
Jor 7.7 | AMN c.208-2A>G | hom | Exon 4 skipping | IGS |
Fam C89 | AMN c.208-2A>G | hom | Exon 4 skipping | IGS |
Israel I | AMN c.208-2A>G | hom | Exon 4 skipping | IGS |
Israel II | AMN c.208-2A>G | hom | Exon 4 skipping | IGS |
MGA30 | AMN c.208-2A>G | hom | Exon 4 skipping | IGS |
MGA45 | AMN c.208-2A>G | hom | Exon 4 skipping | IGS |
MGA52 | AMN c.208-2A>G | hom | Exon 4 skipping | IGS |
MGA58 | AMN c.208-2A>G | hom | Exon 4 skipping | IGS |
MGA59 | AMN c.208-2A>G | hom | Exon 4 skipping | IGS |
MGA69 | AMN c.208-2A>G | hom | Exon 4 skipping | IGS |
MGA75 | AMN c.208-2A>G | hom | Exon 4 skipping | IGS |
MGA22 | AMN c.295delG | hom | p.Gly98fs | IGS |
MGA37 | AMN c.468_469insT & c.1006+34_48del15bp | comp het | p.Gly157fs & Exon 9 skipping | IGS |
BT | AMN c.514-34G>A | hom | new splice site leading to c.513_514ins32bp; p.Thr172fs | IGS |
MGA83 | AMN c.663G>A | hom | p.Trp221* | IGS |
Fam AK | AMN c.683_730del48bp | hom | p.Gln228_Leu243del | IGS |
PT | AMN c.761G>A | hom | p.Gly254Glu | IGS |
MGA19 | AMN c.967_(1169+15)del296bp & c.977_978insCCCG | comp het | partial gene deletion & p.Arg326fs | IGS |
MGA86 | AMN c.1006+16_30del15bp | hom | unknown | IGS |
Sudan 1 | AMN c.1006+34_48del15bp | hom | Exon 9 skipping | IGS |
MGA8 | AMN c.1006+34_48del15bp | hom | Exon 9 skipping | IGS |
MGA82 | AMN c.1006+34_48del15bp | hom | Exon 9 skipping | IGS |
MGA13 | AMN c.1006+34_48del15bp & c.1314_1315delCA | comp het | Exon 9 skipping & p.His438fs | IGS |
Belgium 1 | AMN c.1006+36_50del15bp & c.1253_1254insA | comp het | unknown & p.Leu419fs | IGS |
MGA38 | AMN c.1014_1021delCCTCGGCG | hom | p.Leu339fs | IGS |
MGA73 | AMN c.1014_1021delCCTCGGCG | hom | p.Leu339fs | IGS |
MGA81 | AMN c.1170-6C>T & ? | comp het | splice site mutation? & ? | IGS? |
MGA74 | AMN c.1257+10C>T | hom | splicing defect? | IGS |
MGA68 | AMN c.1314_1315delCA | hom | p.His438fs | IGS |
France 1 | GIF c.79+1G>A | hom | splice site mutation | IFD |
MGA4 | GIF c.79+1G>A | hom | splice site mutation | IFD |
MGA25 | GIF c.79+1G>A | hom | splice site mutation | IFD |
MGA49 | GIF c.79+1G>A & del Intron 8 to distal of 3'-end | comp het | splice site mutation & partial gene deletion | IFD |
MGA79 | GIF c.79+1G>A & c.137C>T | comp het | splice site mutation & p.Ser46Leu | IFD |
MGA67 | GIF c.79+1G>A & c.290T>C | comp het | splice site mutation & p.Met97Thr | IFD |
MGA64 | GIF c.79+1G>A & c.673A>C | comp het | splice site mutation & p.Ser225Arg | IFD |
Kuwait 1 | GIF c.80-1G>A | hom | splice site mutation | IFD |
Kuwait 2 | GIF c.80-1G>A | hom | splice site mutation | IFD |
IT | GIF c.137C>T | hom | p.Ser46Leu | IFD |
NT | GIF c.137C>T | hom | p.Ser46Leu | IFD |
LT | GIF c.161delA | hom | p.Asn54fs | IFD |
Fam 8 | GIF c.183_186delGAAT | hom | p.Met61fs | IFD |
MGA33 | GIF c.183_186delGAAT | hom | p.Met61fs | IFD |
MGA55 | GIF c.183_186delGAAT | hom | p.Met61fs | IFD |
MGA39 | GIF c.183_186delGAAT & c.659T>C | comp het | p.Met61fs & p.Ile220Thr | IFD |
MGA27 | GIF c.256+2T>G & c.659T>C | comp het | splice site mutation & p.Ile220Thr | IFD |
MGA35 | GIF c.290T>C & ? | comp het | p.Met97Thr & ? | IFD |
MGA54 | GIF c.431_438delAGAAGAAC & c.974_975insG | comp het | p.Gln144fs & p.Val325fs | IFD |
MGA48 | GIF c.469T>C & ? | comp het? | p.Phe157Leu & ? | IFD? |
HT | GIF c.685G>A | hom | p.Ala229Thr | IFD |
MGA36 | GIF c.685G>A | hom | p.Ala229Thr | IFD |
D2914 | GIF c.938C>T & ? | comp het | p.Thr313Ile & ? | IFD |
MGA24 | GIF c.1073+5G>A | hom | splice site mutation | IFD |
MGA63 | GIF c.1073+5G>A | hom | splice site mutation | IFD |
MGA92 | GIF c.1073+5G>A | hom | splice site mutation | IFD |
AT | GIF c.1175_1176insT | hom | p.Thr393fs | IFD |
MGA61 | GIF c.1222G>A | hom | p.Glu408Lys | IFD |
MGA9 | LMBRD1 c.404delC & c.1056delG | comp het | p.Thr135fs & p.Leu352fs | cblF defect |
JCA1 | AMN/CUBN excluded; GIF/FUT2/CD320/ABCC1/LMBRD1 screened | n/a | n/a | differential diagnosis? |
MGA6 | AMN/CUBN/GIF/FUT2/CD320/ABCC1/LMBRD1/TCN2 screened | n/a | n/a | differential diagnosis? |
MGA10 | AMN/CUBN/GIF/FUT2/CD320/ABCC1/LMBRD1 screened | n/a | n/a | differential diagnosis? |
MGA15 | AMN/CUBN/GIF/FUT2/CD320/ABCC1/LMBRD1 screened | n/a | n/a | differential diagnosis? |
MGA16 | AMN/CUBN/GIF/FUT2/CD320/ABCC1/LMBRD1 screened | n/a | n/a | differential diagnosis? |
MGA18 | AMN/CUBN/GIF/FUT2/CD320/ABCC1/LMBRD1 screened | n/a | n/a | differential diagnosis? |
MGA21 | AMN/CUBN/GIF/FUT2/CD320/ABCC1/LMBRD1 screened | n/a | n/a | differential diagnosis? |
MGA23 | AMN/CUBN/GIF/FUT2/CD320/ABCC1/LMBRD1/TCN2 screened | n/a | n/a | differential diagnosis? |
MGA28 | AMN/CUBN/GIF/FUT2/CD320/ABCC1/LMBRD1 screened | n/a | n/a | differential diagnosis? |
MGA31 | AMN/CUBN/GIF/FUT2/CD320/ABCC1/LMBRD1 screened | n/a | n/a | differential diagnosis? |
MGA32 | AMN/CUBN/GIF/FUT2/CD320/ABCC1/LMBRD1 screened | n/a | n/a | differential diagnosis? |
MGA40 | AMN/CUBN/GIF excluded; FUT2/CD320/ABCC1/LMBRD1 screened | n/a | n/a | differential diagnosis? |
MGA41 | AMN/CUBN/GIF excluded; FUT2/CD320/ABCC1/LMBRD1 screened | n/a | n/a | differential diagnosis? |
MGA42 | AMN/CUBN/GIF screened | n/a | n/a | differential diagnosis? |
MGA44 | AMN/CUBN/GIF/ABCC1/LMBRD1 screened | n/a | n/a | differential diagnosis? |
MGA46 | CUBN/GIF excluded; AMN/FUT2/CD320/ABCC1/LMBRD1 screened | n/a | n/a | differential diagnosis? |
MGA50 | AMN/CUBN/GIF screened | n/a | n/a | differential diagnosis? |
MGA62 | AMN/CUBN/GIF/FUT2/CD320/ABCC1/LMBRD1/TCN1/TCN2 screened | n/a | n/a | TCN1 defect? |
MGA70 | AMN/CUBN/GIF/ABCC1/LMBRD1 screened | n/a | n/a | differential diagnosis? |
MGA71 | AMN/CUBN/GIF screened | n/a | n/a | differential diagnosis? |
MGA80 | AMN/CUBN/GIF/ABCC1/LMBRD1 screened | n/a | n/a | differential diagnosis? |
MGA84 | AMN/CUBN/GIF screened | n/a | n/a | differential diagnosis? |
MGA85 | AMN excluded; CUBN/GIF screened | n/a | n/a | differential diagnosis? |
MGA87 | AMN/CUBN/GIF screened | n/a | n/a | differential diagnosis? |
MGA89 | GIF excluded; AMN/CUBN screened | n/a | n/a | differential diagnosis? |
MGA90 | AMN/CUBN excluded; GIF screened | n/a | n/a | differential diagnosis? |
MGA91 | TCN1 c.747+3A>C & ?; GIF screened | comp het? | splice site mutation? | TCN1 defect? |