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Mutation:
DNAI1 E178K
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Primary ciliary dyskinesia
Minor Allele Frequency: (ESP6500)
[0.0308]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 183T
Affected site:
Position: 183
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 177I | V[T/I]TEEELMTPKQPKER | 6 |
distal
|
| 178K | VT[E/K]EEELMTPKQPKER | 5 |
distal
|
| 188E | VTEEELMTPKQP[K/E]KER | 5 |
distal
|
| 188R | VTEEELMTPKQP[K/R]KER | 5 |
distal
|
| 182I | VTEEEL[M/I]MTPKQPKER | 1 |
proximal
|
| 180Q | VTEE[E/Q]ELMTPKQPKER | 3 |
distal
|
External references
dbSNP:
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