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Mutation:
BRCA1 S434G
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hereditary cancer-predisposing syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 428K
Affected site:
Position: 428
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
Mutation | In sequence | Distance | Impact |
---|---|---|---|
434N | EYSGSSEKIDLLA[S/N]SD | 6 |
distal
|
434G | EYSGSSEKIDLLA[S/G]SD | 6 |
distal
|
434R | EYSGSSEKIDLLA[S/R]SD | 6 |
distal
|
432P | EYSGSSEKIDL[L/P]LASD | 4 |
distal
|
432M | EYSGSSEKIDL[L/M]LASD | 4 |
distal
|
431I | EYSGSSEKID[L/I]LLASD | 3 |
distal
|
430G | EYSGSSEKI[D/G]DLLASD | 2 |
proximal
|
429R | EYSGSSEK[I/R]IDLLASD | 1 |
proximal
|
429T | EYSGSSEK[I/T]IDLLASD | 1 |
proximal
|
424R | EYS[G/R]GSSEKIDLLASD | 4 |
distal
|
424S | EYS[G/S]GSSEKIDLLASD | 4 |
distal
|
422F | E[Y/F]YSGSSEKIDLLASD | 6 |
distal
|
422C | E[Y/C]YSGSSEKIDLLASD | 6 |
distal
|
422H | E[Y/H]YSGSSEKIDLLASD | 6 |
distal
|
PTM Site: 434S
Affected site:
Position: 434
Residue: S
Type: phosphorylation
Impact:
directOther known mutations affecting this site
Mutation | In sequence | Distance | Impact |
---|---|---|---|
440S | EKIDLLASDPHEA[L/S]LI | 6 |
distal
|
439G | EKIDLLASDPHE[A/G]ALI | 5 |
distal
|
439S | EKIDLLASDPHE[A/S]ALI | 5 |
distal
|
439T | EKIDLLASDPHE[A/T]ALI | 5 |
distal
|
437R | EKIDLLASDP[H/R]HEALI | 3 |
distal
|
437P | EKIDLLASDP[H/P]HEALI | 3 |
distal
|
437Y | EKIDLLASDP[H/Y]HEALI | 3 |
distal
|
434N | EKIDLLA[S/N]SDPHEALI | 0 |
direct
|
434G | EKIDLLA[S/G]SDPHEALI | 0 |
direct
|
434R | EKIDLLA[S/R]SDPHEALI | 0 |
direct
|
432P | EKIDL[L/P]LASDPHEALI | 2 |
proximal
|
432M | EKIDL[L/M]LASDPHEALI | 2 |
proximal
|
431I | EKID[L/I]LLASDPHEALI | 3 |
distal
|
430G | EKI[D/G]DLLASDPHEALI | 4 |
distal
|
429R | EK[I/R]IDLLASDPHEALI | 5 |
network-rewiring
|
429T | EK[I/T]IDLLASDPHEALI | 5 |
distal
|
External references
dbSNP:
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