VWF mutations and phenotype in 7 group 2 index cases with normal multimers and more than 1 mutation
| Type of mutation by IC* . | Exon/intron . | Nucleotide change† . | Amino acid change . | FVIII:C, IU/dL . | VWF:Rco, IU/dL . | VWF:Ag, IU/dL . | VWF:CB, IU/dL . | VWF:RCo/VWF:Ag . | Cosegregation‡ . |
|---|---|---|---|---|---|---|---|---|---|
| P7F14I1§ | 93 | 60 | 58 | 95 | 1.03 | 2 | |||
| Promoter | Promoter | −3266G>C† | — | ||||||
| Promoter | Promoter | −2730C>T† | — | ||||||
| Promoter | Promoter | −2326T>G† | — | ||||||
| P2F3II1‖¶ | 9 | 44 | 59 | 38 | 0.75 | 3 | |||
| Splice | Int9 | 1109+2T>C† | — | ||||||
| Missense | 20 | 2561G>A40 | R854Q | ||||||
| P5F11II1#¶ | 40 | 38 | 47 | 59 | 0.81 | 2 | |||
| Missense | 20 | 2561G>A40 | R854Q | ||||||
| Missense | 28 | 4751A>G21 | Y1584C | ||||||
| P7F3II1‖¶ | 15 | 38 | 25 | 38 | 1.52 | 3 | |||
| Missense | 20 | 2561G>A40 | R854Q | ||||||
| Missense | 21 | 2771G>A44 | R924Q | ||||||
| P10F4I2§ | 30 | 3 | 27 | 22 | 0.11 | 3 | |||
| Missense | 20 | 2642T>G† | L881R | ||||||
| Missense | 28 | 4263C>G8 | N1421K | ||||||
| P6F5II1¶ | 18 | 7 | 11 | 6 | 0.64 | 1 | |||
| Missense | 21 | 2771G>A44 | R924Q | ||||||
| Missense | 27 | 3614G>A26 | R1205H | ||||||
| P7F16I1§ | 119 | 49 | 47 | 81 | 1.04 | 3 | |||
| Missense | 36 | 6187C>T8** | P2063S | ||||||
| Missense | 39 | 6859C>T† | R2287W |
| Type of mutation by IC* . | Exon/intron . | Nucleotide change† . | Amino acid change . | FVIII:C, IU/dL . | VWF:Rco, IU/dL . | VWF:Ag, IU/dL . | VWF:CB, IU/dL . | VWF:RCo/VWF:Ag . | Cosegregation‡ . |
|---|---|---|---|---|---|---|---|---|---|
| P7F14I1§ | 93 | 60 | 58 | 95 | 1.03 | 2 | |||
| Promoter | Promoter | −3266G>C† | — | ||||||
| Promoter | Promoter | −2730C>T† | — | ||||||
| Promoter | Promoter | −2326T>G† | — | ||||||
| P2F3II1‖¶ | 9 | 44 | 59 | 38 | 0.75 | 3 | |||
| Splice | Int9 | 1109+2T>C† | — | ||||||
| Missense | 20 | 2561G>A40 | R854Q | ||||||
| P5F11II1#¶ | 40 | 38 | 47 | 59 | 0.81 | 2 | |||
| Missense | 20 | 2561G>A40 | R854Q | ||||||
| Missense | 28 | 4751A>G21 | Y1584C | ||||||
| P7F3II1‖¶ | 15 | 38 | 25 | 38 | 1.52 | 3 | |||
| Missense | 20 | 2561G>A40 | R854Q | ||||||
| Missense | 21 | 2771G>A44 | R924Q | ||||||
| P10F4I2§ | 30 | 3 | 27 | 22 | 0.11 | 3 | |||
| Missense | 20 | 2642T>G† | L881R | ||||||
| Missense | 28 | 4263C>G8 | N1421K | ||||||
| P6F5II1¶ | 18 | 7 | 11 | 6 | 0.64 | 1 | |||
| Missense | 21 | 2771G>A44 | R924Q | ||||||
| Missense | 27 | 3614G>A26 | R1205H | ||||||
| P7F16I1§ | 119 | 49 | 47 | 81 | 1.04 | 3 | |||
| Missense | 36 | 6187C>T8** | P2063S | ||||||
| Missense | 39 | 6859C>T† | R2287W |
— indicates not applicable.
ICs are indicated by their study ID.
Novel mutations.
Cosegregation of VWD with the VWF gene12 ; 1 indicates complete cosegregation; 2, incomplete cosegregation; 3, not informative.
Allelic inheritance of 2 mutations.
Absent VWF:FVIIIB.
Compound heterozygous inheritance of 2 mutations.
Reduced VWF:FVIIIB.
Frequency checked in matched local population; allele frequency, 0.025.