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Mutation:
SLC29A2 N48S
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)
[0.0399361]
PTM Site: 48N
Affected site:
Position: 48
Residue: N
Type: glycosylation, N-glycosylation
Impact:
directOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 52G | ARLAGAGNSTA[R/G]RILS | 4 |
distal
|
| 48S | ARLAGAG[N/S]NSTARILS | 0 |
direct
|
| 47R | ARLAGA[G/R]GNSTARILS | 1 |
proximal
|
| 46T | ARLAG[A/T]AGNSTARILS | 2 |
proximal
|
| 51T | ARLAGAGNST[A/T]ARILS | 3 |
distal
|
PTM Site: 49S
Affected site:
Position: 49
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 52G | RLAGAGNSTA[R/G]RILST | 3 |
distal
|
| 48S | RLAGAG[N/S]NSTARILST | 1 |
proximal
|
| 47R | RLAGA[G/R]GNSTARILST | 2 |
proximal
|
| 55T | RLAGAGNSTARIL[S/T]ST | 6 |
distal
|
| 46T | RLAG[A/T]AGNSTARILST | 3 |
distal
|
| 51T | RLAGAGNST[A/T]ARILST | 2 |
proximal
|
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