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Mutation:
MUTYH G69V
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hereditary cancer-predisposing syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 72K
Affected site:
Position: 72
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
Mutation | In sequence | Distance | Impact |
---|---|---|---|
78E | RLQEGARKVVEEL[G/E]GG | 6 |
distal
|
76D | RLQEGARKVVE[E/D]ELGG | 4 |
distal
|
75K | RLQEGARKVV[E/K]EELGG | 3 |
distal
|
74L | RLQEGARKV[V/L]VEELGG | 2 |
proximal
|
73A | RLQEGARK[V/A]VVEELGG | 1 |
proximal
|
72N | RLQEGAR[K/N]KVVEELGG | 0 |
direct
|
72E | RLQEGAR[K/E]KVVEELGG | 0 |
direct
|
71Q | RLQEGA[R/Q]RKVVEELGG | 1 |
proximal
|
71W | RLQEGA[R/W]RKVVEELGG | 1 |
proximal
|
71G | RLQEGA[R/G]RKVVEELGG | 1 |
proximal
|
70V | RLQEG[A/V]ARKVVEELGG | 2 |
proximal
|
70S | RLQEG[A/S]ARKVVEELGG | 2 |
proximal
|
70P | RLQEG[A/P]ARKVVEELGG | 2 |
proximal
|
70T | RLQEG[A/T]ARKVVEELGG | 2 |
proximal
|
69V | RLQE[G/V]GARKVVEELGG | 3 |
distal
|
68D | RLQ[E/D]EGARKVVEELGG | 4 |
distal
|
68V | RLQ[E/V]EGARKVVEELGG | 4 |
distal
|
68K | RLQ[E/K]EGARKVVEELGG | 4 |
distal
|
67R | RL[Q/R]QEGARKVVEELGG | 5 |
distal
|
External references
dbSNP:
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