Nucleotide and amino acid sequence variants between A/J and CASA/RkJ VWF
Nucleotide . | VWF domain . | Exon . | A/J . | CASA/RkJ . | AA Δ . |
|---|---|---|---|---|---|
| -205 | 5′ UTR | 1 | T | C | — |
| -157 | 5′ UTR | 1 | C | T | — |
| -130 | 5′ UTR | 1 | T | C | — |
| -91 | 5′ UTR | 1 | A | C | — |
| +36 | Signal peptide | 2 | T | C | — |
| +58 | Signal peptide | 3 | A | G | T20A |
| +158 | Propeptide, D1 | 3 | T | C | — |
| +339 | Propeptide, D1 | 5 | C | T | — |
| +365 | Propeptide, D1 | 5 | T | G | L122R |
| +366 | Propeptide, D1 | 5 | C | T | — |
| +525 | Propeptide, D1 | 5 | G | C | — |
| +758 | Propeptide, D1 | 7 | T | C | 1253T |
| +774 | Propeptide, D1 | 7 | T | C | — |
| +1110 | Propeptide, D1 | 10 | T | C | — |
| +1188 | Propeptide, D2 | 11 | C | T | — |
| +1236 | Propeptide, D2 | 11 | T | C | — |
| +1264 | Propeptide, D2 | 11 | A | T | T422S |
| +1395 | Propeptide, D2 | 12 | C | G | — |
| +1404 | Propeptide, D2 | 12 | T | C | — |
| +7970 | Mature VWF, C2 | 48 | G | A | R2657Q |
Nucleotide . | VWF domain . | Exon . | A/J . | CASA/RkJ . | AA Δ . |
|---|---|---|---|---|---|
| -205 | 5′ UTR | 1 | T | C | — |
| -157 | 5′ UTR | 1 | C | T | — |
| -130 | 5′ UTR | 1 | T | C | — |
| -91 | 5′ UTR | 1 | A | C | — |
| +36 | Signal peptide | 2 | T | C | — |
| +58 | Signal peptide | 3 | A | G | T20A |
| +158 | Propeptide, D1 | 3 | T | C | — |
| +339 | Propeptide, D1 | 5 | C | T | — |
| +365 | Propeptide, D1 | 5 | T | G | L122R |
| +366 | Propeptide, D1 | 5 | C | T | — |
| +525 | Propeptide, D1 | 5 | G | C | — |
| +758 | Propeptide, D1 | 7 | T | C | 1253T |
| +774 | Propeptide, D1 | 7 | T | C | — |
| +1110 | Propeptide, D1 | 10 | T | C | — |
| +1188 | Propeptide, D2 | 11 | C | T | — |
| +1236 | Propeptide, D2 | 11 | T | C | — |
| +1264 | Propeptide, D2 | 11 | A | T | T422S |
| +1395 | Propeptide, D2 | 12 | C | G | — |
| +1404 | Propeptide, D2 | 12 | T | C | — |
| +7970 | Mature VWF, C2 | 48 | G | A | R2657Q |
Nucleotides are numbered from the A of the ATG start codon and amino acids from the initiation methionine.36 Amino acid changes (AA Δ) are designated as A/J residue, amino acid number, CASA/RkJ residue.
— indicates that the observed nucleotide change did not alter the amino acid sequence.