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Mutation:
SGCD H8Y
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Familial dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2F
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 11S
Affected site:
Position: 11
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 6H | EQ[Y/H]YTHHRSTMPGSVG | 5 |
distal
|
| 8Y | EQYT[H/Y]HHRSTMPGSVG | 3 |
distal
|
| 10Q | EQYTHH[R/Q]RSTMPGSVG | 1 |
proximal
|
| 11G | EQYTHHR[S/G]STMPGSVG | 0 |
direct
|
| 10W | EQYTHH[R/W]RSTMPGSVG | 1 |
proximal
|
PTM Site: 12T
Affected site:
Position: 12
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 6H | Q[Y/H]YTHHRSTMPGSVGP | 6 |
distal
|
| 8Y | QYT[H/Y]HHRSTMPGSVGP | 4 |
distal
|
| 10Q | QYTHH[R/Q]RSTMPGSVGP | 2 |
network-rewiring
|
| 11G | QYTHHR[S/G]STMPGSVGP | 1 |
proximal
|
| 10W | QYTHH[R/W]RSTMPGSVGP | 2 |
network-rewiring
|
External references
dbSNP:
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