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Mutation:
FLNA M28V
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: 23T
Affected site:
Position: 23
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 28I | APGGGVDTRDAE[M/I]MPA | 5 |
distal
|
| 28V | APGGGVDTRDAE[M/V]MPA | 5 |
distal
|
| 26V | APGGGVDTRD[A/V]AEMPA | 3 |
distal
|
| 26P | APGGGVDTRD[A/P]AEMPA | 3 |
distal
|
| 26T | APGGGVDTRD[A/T]AEMPA | 3 |
distal
|
| 24W | APGGGVDT[R/W]RDAEMPA | 1 |
proximal
|
| 22G | APGGGV[D/G]DTRDAEMPA | 1 |
proximal
|
| 21F | APGGG[V/F]VDTRDAEMPA | 2 |
proximal
|
PTM Site: 31T
Affected site:
Position: 31
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 32G | RDAEMPAT[E/G]EKDLAED | 1 |
proximal
|
| 28I | RDAE[M/I]MPATEKDLAED | 3 |
distal
|
| 28V | RDAE[M/V]MPATEKDLAED | 3 |
distal
|
| 26V | RD[A/V]AEMPATEKDLAED | 5 |
distal
|
| 26P | RD[A/P]AEMPATEKDLAED | 5 |
distal
|
| 26T | RD[A/T]AEMPATEKDLAED | 5 |
distal
|
PTM Site: 33K
Affected site:
Position: 33
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 39G | AEMPATEKDLAED[A/G]AP | 6 |
distal
|
| 39S | AEMPATEKDLAED[A/S]AP | 6 |
distal
|
| 32G | AEMPAT[E/G]EKDLAEDAP | 1 |
proximal
|
| 28I | AE[M/I]MPATEKDLAEDAP | 5 |
distal
|
| 28V | AE[M/V]MPATEKDLAEDAP | 5 |
distal
|
External references
dbSNP:
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