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Mutation:
EPS15L1 K701R
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
[0.0077]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 694K
Affected site:
Position: 694
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 689W | FT[S/W]SDPFTKNPSLPSK | 5 |
distal
|
| 693M | FTSDPF[T/M]TKNPSLPSK | 1 |
proximal
|
| 690Y | FTS[D/Y]DPFTKNPSLPSK | 4 |
distal
|
| 699S | FTSDPFTKNPSL[P/S]PSK | 5 |
distal
|
| 698F | FTSDPFTKNPS[L/F]LPSK | 4 |
distal
|
| 689L | FT[S/L]SDPFTKNPSLPSK | 5 |
distal
|
PTM Site: 697S
Affected site:
Position: 697
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 701R | DPFTKNPSLPS[K/R]KLDP | 4 |
distal
|
| 693M | DPF[T/M]TKNPSLPSKLDP | 4 |
distal
|
| 699S | DPFTKNPSL[P/S]PSKLDP | 2 |
proximal
|
| 698F | DPFTKNPS[L/F]LPSKLDP | 1 |
proximal
|
PTM Site: 701K
Affected site:
Position: 701
Residue: K
Type: ubiquitination
Impact:
directOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 701R | KNPSLPS[K/R]KLDPFESS | 0 |
direct
|
| 699S | KNPSL[P/S]PSKLDPFESS | 2 |
proximal
|
| 698F | KNPS[L/F]LPSKLDPFESS | 3 |
distal
|
| 707C | KNPSLPSKLDPFE[S/C]SS | 6 |
distal
|
PTM Site: 707S
Affected site:
Position: 707
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 701R | S[K/R]KLDPFESSDPFSSS | 6 |
distal
|
| 712L | SKLDPFESSDPF[S/L]SSS | 5 |
distal
|
| 707C | SKLDPFE[S/C]SSDPFSSS | 0 |
direct
|
PTM Site: 708S
Affected site:
Position: 708
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 712L | KLDPFESSDPF[S/L]SSSS | 4 |
distal
|
| 707C | KLDPFE[S/C]SSDPFSSSS | 1 |
proximal
|
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