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Summary

Isoform:
Position:
43
Ref:
K
Mutation:
N
PTM impact:
direct
PTM affected:
4
Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Periventricular nodular heterotopia 1

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 42K

Affected site:

Position: 42
Residue: K
Type: ubiquitination, acetylation, methylation

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
43N LAEDAPWK[K/N]KIQQNTF 1
proximal
42R LAEDAPW[K/R]KKIQQNTF 0
direct
39G LAED[A/G]APWKKIQQNTF 3
distal
39S LAED[A/S]APWKKIQQNTF 3
distal

PTM Site: 43K

Affected site:

Position: 43
Residue: K
Type: ubiquitination

Impact:

direct

Other known mutations affecting this site

Mutation In sequence Distance Impact
43N AEDAPWK[K/N]KIQQNTFT 0
direct
42R AEDAPW[K/R]KKIQQNTFT 1
proximal
39G AED[A/G]APWKKIQQNTFT 4
distal
39S AED[A/S]APWKKIQQNTFT 4
distal

PTM Site: 48T

Affected site:

Position: 48
Residue: T
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
43N WK[K/N]KIQQNTFTRWCNE 5
distal
42R W[K/R]KKIQQNTFTRWCNE 6
distal
54K WKKIQQNTFTRWC[N/K]NE 6
distal
51C WKKIQQNTFT[R/C]RWCNE 3
distal

PTM Site: 50T

Affected site:

Position: 50
Residue: T
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
56Q KIQQNTFTRWCNE[H/Q]HL 6
distal
55K KIQQNTFTRWCN[E/K]EHL 5
distal
54K KIQQNTFTRWC[N/K]NEHL 4
distal
51C KIQQNTFT[R/C]RWCNEHL 1
proximal

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