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Mutation:
FLNA K43N
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Periventricular nodular heterotopia 1
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 42K
Affected site:
Position: 42
Residue: K
Type: ubiquitination, methylation, acetylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 43N | LAEDAPWK[K/N]KIQQNTF | 1 |
proximal
|
| 42R | LAEDAPW[K/R]KKIQQNTF | 0 |
direct
|
| 39G | LAED[A/G]APWKKIQQNTF | 3 |
distal
|
| 39S | LAED[A/S]APWKKIQQNTF | 3 |
distal
|
PTM Site: 43K
Affected site:
Position: 43
Residue: K
Type: ubiquitination
Impact:
directOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 43N | AEDAPWK[K/N]KIQQNTFT | 0 |
direct
|
| 42R | AEDAPW[K/R]KKIQQNTFT | 1 |
proximal
|
| 39G | AED[A/G]APWKKIQQNTFT | 4 |
distal
|
| 39S | AED[A/S]APWKKIQQNTFT | 4 |
distal
|
PTM Site: 48T
Affected site:
Position: 48
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 43N | WK[K/N]KIQQNTFTRWCNE | 5 |
distal
|
| 42R | W[K/R]KKIQQNTFTRWCNE | 6 |
distal
|
| 54K | WKKIQQNTFTRWC[N/K]NE | 6 |
distal
|
| 51C | WKKIQQNTFT[R/C]RWCNE | 3 |
distal
|
PTM Site: 50T
Affected site:
Position: 50
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 56Q | KIQQNTFTRWCNE[H/Q]HL | 6 |
distal
|
| 55K | KIQQNTFTRWCN[E/K]EHL | 5 |
distal
|
| 54K | KIQQNTFTRWC[N/K]NEHL | 4 |
distal
|
| 51C | KIQQNTFT[R/C]RWCNEHL | 1 |
proximal
|
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