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Mutation:
COL6A2 R680H
Summary
Isoform:
Position:
680
Ref:
R
Mutation:
H
PTM impact:
network-rewiring
PTM affected:
1
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Collagen VI-related myopathy, Myosclerosis
Minor Allele Frequency: (ESP6500)
[41.2963]
Minor Allele Frequency: (1000 Genomes)
[39.397]
PTM Site: 683S
Affected site:
Position: 683
Residue: S
Type: phosphorylation
Best loss of PTM site:
AKT1 (probability p=0.969)
Site: 683S (phosphorylation)
Position in motif: -3
There are 6 other predicted
losses:
- PRKACA (p=0.948)
- CAMK2A (p=0.948)
- CHEK1 (p=0.92)
- PRKG1 (p=0.915)
- PRKAA1 (p=0.87)
- PAK1 (p=0.855)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 679K | LDD[E/K]ERIDSLSSFKEA | 4 |
distal
|
| 680H | LDDE[R/H]RIDSLSSFKEA | 3 |
network-rewiring
|
| 685W | LDDERIDSL[S/W]SSFKEA | 2 |
proximal
|
| 682H | LDDERI[D/H]DSLSSFKEA | 1 |
proximal
|
| 682N | LDDERI[D/N]DSLSSFKEA | 1 |
proximal
|
| 689K | LDDERIDSLSSFK[E/K]EA | 6 |
distal
|
| 683F | LDDERID[S/F]SLSSFKEA | 0 |
direct
|
External references
dbSNP:
If you have any questions or feedback about this mutation:
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