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Mutation:
HMGCL V51I
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Deficiency of hydroxymethylglutaryl-CoA lyase
Minor Allele Frequency: (ESP6500)
[0.0231]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 48K
Affected site:
Position: 48
Residue: K
Type: ubiquitination, acetylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 51I | RDGLQNEKNI[V/I]VSTPV | 3 |
distal
|
| 46K | RDGLQ[N/K]NEKNIVSTPV | 2 |
proximal
|
| 45L | RDGL[Q/L]QNEKNIVSTPV | 3 |
distal
|
| 44P | RDG[L/P]LQNEKNIVSTPV | 4 |
distal
|
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