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Mutation:
FGA S400F
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Afibrinogenemia, congenital, Familial visceral amyloidosis, Ostertag type
Minor Allele Frequency: (ESP6500)
[0.0077]
Minor Allele Frequency: (1000 Genomes)
[0.359425]
PTM Site: 397S
Affected site:
Position: 397
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 403T | SGSFRPDSPGSGN[A/T]AR | 6 |
distal
|
| 400F | SGSFRPDSPG[S/F]SGNAR | 3 |
distal
|
| 396E | SGSFRP[D/E]DSPGSGNAR | 1 |
proximal
|
| 395L | SGSFR[P/L]PDSPGSGNAR | 2 |
proximal
|
| 399C | SGSFRPDSP[G/C]GSGNAR | 2 |
proximal
|
| 391R | S[G/R]GSFRPDSPGSGNAR | 6 |
distal
|
| 400A | SGSFRPDSPG[S/A]SGNAR | 3 |
distal
|
| 396N | SGSFRP[D/N]DSPGSGNAR | 1 |
proximal
|
PTM Site: 400S
Affected site:
Position: 400
Residue: S
Type: phosphorylation
Impact:
directOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 403T | FRPDSPGSGN[A/T]ARPNN | 3 |
distal
|
| 400F | FRPDSPG[S/F]SGNARPNN | 0 |
direct
|
| 405A | FRPDSPGSGNAR[P/A]PNN | 5 |
distal
|
| 396E | FRP[D/E]DSPGSGNARPNN | 4 |
distal
|
| 395L | FR[P/L]PDSPGSGNARPNN | 5 |
distal
|
| 399C | FRPDSP[G/C]GSGNARPNN | 1 |
proximal
|
| 400A | FRPDSPG[S/A]SGNARPNN | 0 |
direct
|
| 396N | FRP[D/N]DSPGSGNARPNN | 4 |
distal
|
External references
dbSNP:
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