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Summary

Isoform:
Position:
70
Ref:
A
Mutation:
G
PTM impact:
distal
PTM affected:
1
Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Infertility associated with multi-tailed spermatozoa and excessive DNA

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 76K

Affected site:

Position: 76
Residue: K
Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
70G V[A/G]ALKVLFKSQIEKEG 6
distal
79V VALKVLFKSQ[I/V]IEKEG 3
distal
79T VALKVLFKSQ[I/T]IEKEG 3
distal
77L VALKVLFK[S/L]SQIEKEG 1
proximal

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