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Mutation:
COL6A2 E695Q
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
Ovary-AdenoCA
Disease Annotations: (ClinVar)
Bethlem myopathy 1
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 688K
Affected site:
Position: 688
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 685W | IDSL[S/W]SSFKEAVKNLE | 3 |
distal
|
| 682H | I[D/H]DSLSSFKEAVKNLE | 6 |
distal
|
| 692E | IDSLSSFKEAV[K/E]KNLE | 4 |
distal
|
| 682N | I[D/N]DSLSSFKEAVKNLE | 6 |
distal
|
| 689K | IDSLSSFK[E/K]EAVKNLE | 1 |
proximal
|
| 690T | IDSLSSFKE[A/T]AVKNLE | 2 |
proximal
|
| 683F | ID[S/F]SLSSFKEAVKNLE | 5 |
distal
|
PTM Site: 692K
Affected site:
Position: 692
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 695K | SSFKEAVKNL[E/K]EWIAG | 3 |
distal
|
| 695Q | SSFKEAVKNL[E/Q]EWIAG | 3 |
distal
|
| 695A | SSFKEAVKNL[E/A]EWIAG | 3 |
distal
|
| 692E | SSFKEAV[K/E]KNLEWIAG | 0 |
direct
|
| 689K | SSFK[E/K]EAVKNLEWIAG | 3 |
distal
|
| 690T | SSFKE[A/T]AVKNLEWIAG | 2 |
proximal
|
| 698V | SSFKEAVKNLEWI[A/V]AG | 6 |
distal
|
PTM Site: 701T
Affected site:
Position: 701
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 695K | L[E/K]EWIAGGTWTPSALK | 6 |
distal
|
| 695Q | L[E/Q]EWIAGGTWTPSALK | 6 |
distal
|
| 695A | L[E/A]EWIAGGTWTPSALK | 6 |
distal
|
| 699D | LEWIA[G/D]GGTWTPSALK | 2 |
proximal
|
| 701S | LEWIAGG[T/S]TWTPSALK | 0 |
direct
|
| 698V | LEWI[A/V]AGGTWTPSALK | 3 |
distal
|
External references
dbSNP:
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