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Summary

Isoform:
Position:
222
Ref:
T
Mutation:
N
PTM impact:
distal
PTM affected:
1
Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Immunodeficiency 51

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 225N

Affected site:

Position: 225
Residue: N
Type: N-glycosylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
219L R[V/L]VSFTLWNESTHYQI 6
distal
222N RVSF[T/N]TLWNESTHYQI 3
distal
226K RVSFTLWN[E/K]ESTHYQI 1
proximal
226Q RVSFTLWN[E/Q]ESTHYQI 1
proximal

External references

dbSNP:

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