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Mutation:
BLM A311S
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Bloom syndrome, Hereditary cancer-predisposing syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 304S
Affected site:
Position: 304
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 298M | D[T/M]TDFVPPSPEEIISA | 6 |
distal
|
| 305R | DTDFVPPS[P/R]PEEIISA | 1 |
network-rewiring
|
| 308V | DTDFVPPSPEE[I/V]IISA | 4 |
distal
|
| 309T | DTDFVPPSPEEI[I/T]ISA | 5 |
distal
|
PTM Site: 317K
Affected site:
Position: 317
Residue: K
Type: sumoylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 311S | S[A/S]ASSSSSKCLSTLKD | 6 |
distal
|
| 312T | SA[S/T]SSSSSKCLSTLKD | 5 |
distal
|
| 312A | SA[S/A]SSSSSKCLSTLKD | 5 |
distal
|
| 315F | SASSS[S/F]SSKCLSTLKD | 2 |
proximal
|
| 318W | SASSSSSK[C/W]CLSTLKD | 1 |
proximal
|
| 319F | SASSSSSKC[L/F]LSTLKD | 2 |
proximal
|
| 320T | SASSSSSKCL[S/T]STLKD | 3 |
distal
|
| 323R | SASSSSSKCLSTL[K/R]KD | 6 |
distal
|
External references
dbSNP:
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