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Mutation:
BLM I366L
Summary
Isoform:
Position:
366
Ref:
I
Mutation:
L
PTM impact:
proximal
PTM affected:
2
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Bloom syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
[0.0399361]
PTM Site: 359T
Affected site:
Position: 359
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 353V | E[L/V]LNPETSTDCDARQI | 6 |
distal
|
| 355R | ELN[P/R]PETSTDCDARQI | 4 |
distal
|
| 355L | ELN[P/L]PETSTDCDARQI | 4 |
distal
|
| 363T | ELNPETSTDCD[A/T]ARQI | 4 |
distal
|
| 363V | ELNPETSTDCD[A/V]ARQI | 4 |
distal
|
| 364K | ELNPETSTDCDA[R/K]RQI | 5 |
distal
|
PTM Site: 367S
Affected site:
Position: 367
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 363T | DCD[A/T]ARQISLQQQLIH | 4 |
distal
|
| 363V | DCD[A/V]ARQISLQQQLIH | 4 |
distal
|
| 364K | DCDA[R/K]RQISLQQQLIH | 3 |
network-rewiring
|
| 366L | DCDARQ[I/L]ISLQQQLIH | 1 |
proximal
|
| 366T | DCDARQ[I/T]ISLQQQLIH | 1 |
proximal
|
| 367N | DCDARQI[S/N]SLQQQLIH | 0 |
direct
|
| 369H | DCDARQISL[Q/H]QQQLIH | 2 |
proximal
|
| 373V | DCDARQISLQQQL[I/V]IH | 6 |
distal
|
| 373N | DCDARQISLQQQL[I/N]IH | 6 |
distal
|
External references
dbSNP:
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