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Summary

Isoform:
Position:
82
Ref:
Q
Mutation:
R
PTM impact:
proximal
PTM affected:
3
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)

no data

PTM Site: 76S

Affected site:

Position: 76
Residue: S
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
82R KIKGCTGSLNMTL[Q/R]QR 6
distal
81V KIKGCTGSLNMT[L/V]LQR 5
distal
72R KIK[G/R]GCTGSLNMTLQR 4
distal
73Y KIKG[C/Y]CTGSLNMTLQR 3
distal

PTM Site: 80T

Affected site:

Position: 80
Residue: T
Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
82R CTGSLNMTL[Q/R]QRASAA 2
proximal
84T CTGSLNMTLQR[A/T]ASAA 4
distal
81V CTGSLNMT[L/V]LQRASAA 1
proximal

PTM Site: 89K

Affected site:

Position: 89
Residue: K
Type: ubiquitination, sumoylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
84T QR[A/T]ASAAPKPEPVPVQ 5
distal
92S QRASAAPKPE[P/S]PVPVQ 3
distal
92L QRASAAPKPE[P/L]PVPVQ 3
distal

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