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Summary

Isoform:
Position:
244
Ref:
S
Mutation:
F
PTM impact:
distal
PTM affected:
1
Kinases:

Clinical Information

Cancer types: (TCGA MC3)

SKCM

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

no data

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 248T

Affected site:

Position: 248
Residue: T
Type: O-glycosylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
248R NENSEVI[T/R]TPGFPPNH 0
direct
245G NENS[E/G]EVITPGFPPNH 3
distal
252S NENSEVITPGF[P/S]PPNH 4
distal
244F NEN[S/F]SEVITPGFPPNH 4
distal

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