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Mutation:
FBN2 T567I
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
[0.0199681]
PTM Site: 570K
Affected site:
Position: 570
Residue: K
Type: sumoylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 574V | GFQRTPTKQAC[I/V]IDID | 4 |
distal
|
| 573R | GFQRTPTKQA[C/R]CIDID | 3 |
distal
|
| 565R | GF[Q/R]QRTPTKQACIDID | 5 |
distal
|
| 567I | GFQR[T/I]TPTKQACIDID | 3 |
distal
|
| 566K | GFQ[R/K]RTPTKQACIDID | 4 |
distal
|
| 576N | GFQRTPTKQACID[I/N]ID | 6 |
distal
|
| 572V | GFQRTPTKQ[A/V]ACIDID | 2 |
proximal
|
| 565K | GF[Q/K]QRTPTKQACIDID | 5 |
distal
|
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