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Summary

Isoform:
Position:
39
Ref:
A
Mutation:
S
PTM impact:
distal
PTM affected:
3
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: 33K

Affected site:

Position: 33
Residue: K
Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
39G AEMPATEKDLAED[A/G]AP 6
distal
39S AEMPATEKDLAED[A/S]AP 6
distal
32G AEMPAT[E/G]EKDLAEDAP 1
proximal
28I AE[M/I]MPATEKDLAEDAP 5
distal
28V AE[M/V]MPATEKDLAEDAP 5
distal

PTM Site: 42K

Affected site:

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

Impact:

distal

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:

distal

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

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