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Mutation:
FLNA A39S
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: 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
|
PTM Site: 42K
Affected site:
Position: 42
Residue: K
Type: acetylation, methylation, ubiquitination
Impact:
distalOther 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:
distalOther 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
|
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