You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020

Summary

Isoform:
Position:
48
Ref:
N
Mutation:
S
PTM impact:
direct
PTM affected:
2
Kinases:

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:

direct

Other 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:

proximal

Other 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

If you have any questions or feedback about this mutation:

Contact us