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Mutation:
FH V306A
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hereditary cancer-predisposing syndrome, Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 301T
Affected site:
Position: 301
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 306A | AAKVAALTGLPF[V/A]VTA | 5 |
distal
|
| 306I | AAKVAALTGLPF[V/I]VTA | 5 |
distal
|
| 305S | AAKVAALTGLP[F/S]FVTA | 4 |
distal
|
| 304R | AAKVAALTGL[P/R]PFVTA | 3 |
distal
|
| 304S | AAKVAALTGL[P/S]PFVTA | 3 |
distal
|
| 303S | AAKVAALTG[L/S]LPFVTA | 2 |
proximal
|
| 302D | AAKVAALT[G/D]GLPFVTA | 1 |
proximal
|
| 298G | AAKV[A/G]AALTGLPFVTA | 3 |
distal
|
| 298P | AAKV[A/P]AALTGLPFVTA | 3 |
distal
|
| 295T | A[A/T]AKVAALTGLPFVTA | 6 |
distal
|
| 298S | AAKV[A/S]AALTGLPFVTA | 3 |
distal
|
| 302S | AAKVAALT[G/S]GLPFVTA | 1 |
proximal
|
| 302C | AAKVAALT[G/C]GLPFVTA | 1 |
proximal
|
| 300H | AAKVAA[L/H]LTGLPFVTA | 1 |
proximal
|
| 297A | AAK[V/A]VAALTGLPFVTA | 4 |
distal
|
External references
dbSNP:
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