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Mutation:
KCNMA1 K726E
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 720S
Affected site:
Position: 720
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 726E | RNGGMRNSPNTSP[K/E]KL | 6 |
distal
|
| 724L | RNGGMRNSPNT[S/L]SPKL | 4 |
distal
|
| 723N | RNGGMRNSPN[T/N]TSPKL | 3 |
distal
|
| 718Q | RNGGM[R/Q]RNSPNTSPKL | 2 |
network-rewiring
|
| 724A | RNGGMRNSPNT[S/A]SPKL | 4 |
distal
|
PTM Site: 724S
Affected site:
Position: 724
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 726E | MRNSPNTSP[K/E]KLMRHD | 2 |
proximal
|
| 724L | MRNSPNT[S/L]SPKLMRHD | 0 |
direct
|
| 723N | MRNSPN[T/N]TSPKLMRHD | 1 |
proximal
|
| 718Q | M[R/Q]RNSPNTSPKLMRHD | 6 |
distal
|
| 729S | MRNSPNTSPKLM[R/S]RHD | 5 |
distal
|
| 724A | MRNSPNT[S/A]SPKLMRHD | 0 |
direct
|
External references
dbSNP:
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