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Mutation:
MSH6 R62H
Summary
Isoform:
Position:
62
Ref:
R
Mutation:
H
PTM impact:
network-rewiring
PTM affected:
2
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hereditary nonpolyposis colorectal neoplasms
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 63S
Affected site:
Position: 63
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 63T | GPRPLAR[S/T]SASPPKAK | 0 |
direct
|
| 63P | GPRPLAR[S/P]SASPPKAK | 0 |
direct
|
| 63A | GPRPLAR[S/A]SASPPKAK | 0 |
direct
|
| 63Y | GPRPLAR[S/Y]SASPPKAK | 0 |
direct
|
| 63C | GPRPLAR[S/C]SASPPKAK | 0 |
direct
|
PTM Site: 65S
Affected site:
Position: 65
Residue: S
Type: phosphorylation, phosphorylation (SARS-CoV-2)
Best loss of PTM site:
CHEK1 (probability p=0.993)
Site: 65S (phosphorylation, phosphorylation (SARS-CoV-2))
Position in motif: -3
There are 9 other predicted
losses:
- AKT1 (p=0.968)
- PAK1 (p=0.966)
- RPS6KA1 (p=0.965)
- PRKACA (p=0.928)
- CAMK2A (p=0.927)
- CHEK2 (p=0.9)
- SGK1 (p=0.891)
- PRKAA1 (p=0.89)
- PRKG1 (p=0.886)
Other known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 65A | RPLARSA[S/A]SPPKAKNL | 0 |
direct
|
| 65L | RPLARSA[S/L]SPPKAKNL | 0 |
direct
|
| 64T | RPLARS[A/T]ASPPKAKNL | 1 |
proximal
|
| 64P | RPLARS[A/P]ASPPKAKNL | 1 |
proximal
|
| 64E | RPLARS[A/E]ASPPKAKNL | 1 |
proximal
|
External references
dbSNP:
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