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Mutation:
COL6A2 A710D
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Bethlem myopathy 1
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 703T
Affected site:
Position: 703
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 699D | WIA[G/D]GGTWTPSALKFA | 4 |
distal
|
| 701S | WIAGG[T/S]TWTPSALKFA | 2 |
proximal
|
| 698V | WI[A/V]AGGTWTPSALKFA | 5 |
distal
|
PTM Site: 705S
Affected site:
Position: 705
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 699D | A[G/D]GGTWTPSALKFAYD | 6 |
distal
|
| 710D | AGGTWTPSALKF[A/D]AYD | 5 |
distal
|
| 701S | AGG[T/S]TWTPSALKFAYD | 4 |
distal
|
External references
dbSNP:
If you have any questions or feedback about this mutation:
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