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Mutation:
LRBA R2203H
Summary
Isoform:
Position:
2203
Ref:
R
Mutation:
H
PTM impact:
network-rewiring
PTM affected:
3
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Common variable immunodeficiency 8, with autoimmunity
Minor Allele Frequency: (ESP6500)
[0.0077]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 2198S
Affected site:
Position: 2198
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 2203H | LPQTRRISLASP[R/H]RQL | 5 |
distal
|
| 2203C | LPQTRRISLASP[R/C]RQL | 5 |
distal
|
| 2196H | LPQTR[R/H]RISLASPRQL | 2 |
network-rewiring
|
| 2198L | LPQTRRI[S/L]SLASPRQL | 0 |
direct
|
PTM Site: 2201S
Affected site:
Position: 2201
Residue: S
Type: phosphorylation
Best loss of PTM site:
PRKCE (probability p=0.978)
Site: 2201S (phosphorylation)
Position in motif: 2
There are 3 other predicted
losses:
- PRKCA (p=0.969)
- PRKCB (p=0.957)
- PRKCG (p=0.947)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 2203H | TRRISLASP[R/H]RQLFKA | 2 |
network-rewiring
|
| 2203C | TRRISLASP[R/C]RQLFKA | 2 |
network-rewiring
|
| 2196H | TR[R/H]RISLASPRQLFKA | 5 |
network-rewiring
|
| 2198L | TRRI[S/L]SLASPRQLFKA | 3 |
distal
|
PTM Site: 2207K
Affected site:
Position: 2207
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 2203H | ASP[R/H]RQLFKASNMTQR | 4 |
distal
|
| 2203C | ASP[R/C]RQLFKASNMTQR | 4 |
distal
|
| 2209F | ASPRQLFKA[S/F]SNMTQR | 2 |
proximal
|
External references
dbSNP:
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