Fibrinogen variants in CTEPH patients
| LC-MS findings . | Patients with the finding . | Gene . | Exon . | Nucleotide variation* (rs #)† . | Amino acid variation‡ . |
|---|---|---|---|---|---|
| Increase in the size of disialylated Bβ and γ peaks | 1 | FGG | 9 | 9163C>T | γ R375W |
| Additional γ peak pair 28 Da lighter than typical peak pair | 2 | FGG | 5 | 3977T>C (rs2066870) | γ Y114H |
| Atypical Bβ peak pair 14 Da heavier than typical peak pair | 1, 2, 3 | FGB | 5 | 7337C>T (rs6054) | Bβ P235L |
| Atypical Aα peak pattern 24 Da heavier than typical peak pattern | 4 | FGA | 3 | 4075T>A | Aα L69H |
| Additional Aα peak pattern 19 Da lighter than typical peak pattern | 5 | FGA | 5 | 7261G>A | Aα R554H |
| LC-MS findings . | Patients with the finding . | Gene . | Exon . | Nucleotide variation* (rs #)† . | Amino acid variation‡ . |
|---|---|---|---|---|---|
| Increase in the size of disialylated Bβ and γ peaks | 1 | FGG | 9 | 9163C>T | γ R375W |
| Additional γ peak pair 28 Da lighter than typical peak pair | 2 | FGG | 5 | 3977T>C (rs2066870) | γ Y114H |
| Atypical Bβ peak pair 14 Da heavier than typical peak pair | 1, 2, 3 | FGB | 5 | 7337C>T (rs6054) | Bβ P235L |
| Atypical Aα peak pattern 24 Da heavier than typical peak pattern | 4 | FGA | 3 | 4075T>A | Aα L69H |
| Additional Aα peak pattern 19 Da lighter than typical peak pattern | 5 | FGA | 5 | 7261G>A | Aα R554H |
Nucleotide numbering based on GenBank DNA accession numbers AF361104(FGA), AF388026(FGB), and AF350254(FGG).17 Mutations reported herein have been submitted to the NCBI Single Nucleotide Polymorphism database, and have been assigned the following identification (ss) numbers: 120032890 (FGG 9163C>T), 120032889 (FGG 3977T>C), 120032888 (FGB 7337C>T), 120032886 (FGA 4075T>A), and 120032887 (FGA 7261G>A).
Reference cluster identification numbers assigned in the SNP database, if previously reported.
Codon numbering based on the mature polypeptide chains.