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Mutation:
NF1 M877I
Summary
Isoform:
Position:
877
Ref:
M
Mutation:
I
PTM impact:
proximal
PTM affected:
5
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hereditary cancer-predisposing syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 874K
Affected site:
Position: 874
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 869L | MG[P/L]PVSERKGSMISVM | 5 |
distal
|
| 871G | MGPV[S/G]SERKGSMISVM | 3 |
distal
|
| 873G | MGPVSE[R/G]RKGSMISVM | 1 |
proximal
|
| 873C | MGPVSE[R/C]RKGSMISVM | 1 |
proximal
|
| 873H | MGPVSE[R/H]RKGSMISVM | 1 |
proximal
|
| 873P | MGPVSE[R/P]RKGSMISVM | 1 |
proximal
|
| 873L | MGPVSE[R/L]RKGSMISVM | 1 |
proximal
|
| 875S | MGPVSERK[G/S]GSMISVM | 1 |
proximal
|
| 875R | MGPVSERK[G/R]GSMISVM | 1 |
proximal
|
| 875V | MGPVSERK[G/V]GSMISVM | 1 |
proximal
|
| 877V | MGPVSERKGS[M/V]MISVM | 3 |
distal
|
| 877I | MGPVSERKGS[M/I]MISVM | 3 |
distal
|
| 878T | MGPVSERKGSM[I/T]ISVM | 4 |
distal
|
| 880M | MGPVSERKGSMIS[V/M]VM | 6 |
distal
|
PTM Site: 876S
Affected site:
Position: 876
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 871G | PV[S/G]SERKGSMISVMSS | 5 |
distal
|
| 873G | PVSE[R/G]RKGSMISVMSS | 3 |
network-rewiring
|
| 873C | PVSE[R/C]RKGSMISVMSS | 3 |
network-rewiring
|
| 873H | PVSE[R/H]RKGSMISVMSS | 3 |
network-rewiring
|
| 873P | PVSE[R/P]RKGSMISVMSS | 3 |
network-rewiring
|
| 873L | PVSE[R/L]RKGSMISVMSS | 3 |
network-rewiring
|
| 875S | PVSERK[G/S]GSMISVMSS | 1 |
proximal
|
| 875R | PVSERK[G/R]GSMISVMSS | 1 |
proximal
|
| 875V | PVSERK[G/V]GSMISVMSS | 1 |
proximal
|
| 877V | PVSERKGS[M/V]MISVMSS | 1 |
proximal
|
| 877I | PVSERKGS[M/I]MISVMSS | 1 |
proximal
|
| 878T | PVSERKGSM[I/T]ISVMSS | 2 |
proximal
|
| 880M | PVSERKGSMIS[V/M]VMSS | 4 |
distal
|
| 881V | PVSERKGSMISV[M/V]MSS | 5 |
distal
|
| 881T | PVSERKGSMISV[M/T]MSS | 5 |
distal
|
| 881I | PVSERKGSMISV[M/I]MSS | 5 |
distal
|
PTM Site: 879S
Affected site:
Position: 879
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 873G | E[R/G]RKGSMISVMSSEGN | 6 |
distal
|
| 873C | E[R/C]RKGSMISVMSSEGN | 6 |
distal
|
| 873H | E[R/H]RKGSMISVMSSEGN | 6 |
distal
|
| 873P | E[R/P]RKGSMISVMSSEGN | 6 |
distal
|
| 873L | E[R/L]RKGSMISVMSSEGN | 6 |
distal
|
| 875S | ERK[G/S]GSMISVMSSEGN | 4 |
distal
|
| 875R | ERK[G/R]GSMISVMSSEGN | 4 |
distal
|
| 875V | ERK[G/V]GSMISVMSSEGN | 4 |
distal
|
| 877V | ERKGS[M/V]MISVMSSEGN | 2 |
proximal
|
| 877I | ERKGS[M/I]MISVMSSEGN | 2 |
proximal
|
| 878T | ERKGSM[I/T]ISVMSSEGN | 1 |
proximal
|
| 880M | ERKGSMIS[V/M]VMSSEGN | 1 |
proximal
|
| 881V | ERKGSMISV[M/V]MSSEGN | 2 |
proximal
|
| 881T | ERKGSMISV[M/T]MSSEGN | 2 |
proximal
|
| 881I | ERKGSMISV[M/I]MSSEGN | 2 |
proximal
|
| 884D | ERKGSMISVMSS[E/D]EGN | 5 |
distal
|
| 885R | ERKGSMISVMSSE[G/R]GN | 6 |
distal
|
PTM Site: 882S
Affected site:
Position: 882
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 877V | GS[M/V]MISVMSSEGNADT | 5 |
distal
|
| 877I | GS[M/I]MISVMSSEGNADT | 5 |
distal
|
| 878T | GSM[I/T]ISVMSSEGNADT | 4 |
distal
|
| 880M | GSMIS[V/M]VMSSEGNADT | 2 |
proximal
|
| 881V | GSMISV[M/V]MSSEGNADT | 1 |
proximal
|
| 881T | GSMISV[M/T]MSSEGNADT | 1 |
proximal
|
| 881I | GSMISV[M/I]MSSEGNADT | 1 |
proximal
|
| 884D | GSMISVMSS[E/D]EGNADT | 2 |
proximal
|
| 885R | GSMISVMSSE[G/R]GNADT | 3 |
distal
|
| 886K | GSMISVMSSEG[N/K]NADT | 4 |
distal
|
| 887T | GSMISVMSSEGN[A/T]ADT | 5 |
distal
|
| 887V | GSMISVMSSEGN[A/V]ADT | 5 |
distal
|
PTM Site: 883S
Affected site:
Position: 883
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 877V | S[M/V]MISVMSSEGNADTP | 6 |
distal
|
| 877I | S[M/I]MISVMSSEGNADTP | 6 |
distal
|
| 878T | SM[I/T]ISVMSSEGNADTP | 5 |
distal
|
| 880M | SMIS[V/M]VMSSEGNADTP | 3 |
distal
|
| 881V | SMISV[M/V]MSSEGNADTP | 2 |
proximal
|
| 881T | SMISV[M/T]MSSEGNADTP | 2 |
proximal
|
| 881I | SMISV[M/I]MSSEGNADTP | 2 |
proximal
|
| 884D | SMISVMSS[E/D]EGNADTP | 1 |
proximal
|
| 885R | SMISVMSSE[G/R]GNADTP | 2 |
proximal
|
| 886K | SMISVMSSEG[N/K]NADTP | 3 |
distal
|
| 887T | SMISVMSSEGN[A/T]ADTP | 4 |
distal
|
| 887V | SMISVMSSEGN[A/V]ADTP | 4 |
distal
|
| 889A | SMISVMSSEGNAD[T/A]TP | 6 |
distal
|
| 889R | SMISVMSSEGNAD[T/R]TP | 6 |
distal
|
External references
dbSNP:
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