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Summary

Isoform:
Position:
349
Ref:
S
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)

Bloom syndrome

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 343S

Affected site:

Position: 343
Residue: S
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

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Mutation
In sequence
Distance
Impact
343A STSKDLL[S/A]SKPEKMSM 0
direct
342S STSKDL[L/S]LSKPEKMSM 1
proximal
344N STSKDLLS[K/N]KPEKMSM 1
proximal
340N STSK[D/N]DLLSKPEKMSM 3
distal
340H STSK[D/H]DLLSKPEKMSM 3
distal
Showing 1 to 5 of 11 rows

PTM Site: 344K

Affected site:

Position: 344
Residue: K
Type: ubiquitination, sumoylation

Impact:

distal

Other known mutations affecting this site

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Mutation
In sequence
Distance
Impact
344N TSKDLLS[K/N]KPEKMSMQ 0
direct
343A TSKDLL[S/A]SKPEKMSMQ 1
proximal
342S TSKDL[L/S]LSKPEKMSMQ 2
proximal
347E TSKDLLSKPE[K/E]KMSMQ 3
distal
340N TSK[D/N]DLLSKPEKMSMQ 4
distal
Showing 1 to 5 of 11 rows

PTM Site: 347K

Affected site:

Position: 347
Residue: K
Type: sumoylation

Impact:

proximal

Other known mutations affecting this site

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Mutation
In sequence
Distance
Impact
347E DLLSKPE[K/E]KMSMQELN 0
direct
348I DLLSKPEK[M/I]MSMQELN 1
proximal
348V DLLSKPEK[M/V]MSMQELN 1
proximal
349G DLLSKPEKM[S/G]SMQELN 2
proximal
349N DLLSKPEKM[S/N]SMQELN 2
proximal
Showing 1 to 5 of 10 rows

PTM Site: 349S

Affected site:

Position: 349
Residue: S
Type: phosphorylation

Impact:

direct

Other known mutations affecting this site

Loading, please wait...
Mutation
In sequence
Distance
Impact
349G LSKPEKM[S/G]SMQELNPE 0
direct
349N LSKPEKM[S/N]SMQELNPE 0
direct
348I LSKPEK[M/I]MSMQELNPE 1
proximal
348V LSKPEK[M/V]MSMQELNPE 1
proximal
347E LSKPE[K/E]KMSMQELNPE 2
network-rewiring
Showing 1 to 5 of 11 rows

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