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Mutation:

TP53 H47L

Summary

Isoform:
NM_001126117
Position:
47
Ref:
H
Mutation:
L
PTM impact:
distal
PTM affected:
1
Kinases:
AURKB

Clinical Information

Cancer types: (TCGA MC3)

LUSC, HNSC

Cancer types: (PCAWG)

Eso-AdenoCa, Lung-SCC

Disease Annotations: (ClinVar)

Li-Fraumeni syndrome

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 51S

Affected site:

Position: 51
Residue: S
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
57V CPHHERCSDSDGL[A/V]AP 6
distal
57S CPHHERCSDSDGL[A/S]AP 6
distal
56V CPHHERCSDSDG[L/V]LAP 5
distal
55D CPHHERCSDSD[G/D]GLAP 4
distal
55S CPHHERCSDSD[G/S]GLAP 4
distal
54E CPHHERCSDS[D/E]DGLAP 3
distal
54N CPHHERCSDS[D/N]DGLAP 3
distal
53N CPHHERCSD[S/N]SDGLAP 2
proximal
52G CPHHERCS[D/G]DSDGLAP 1
proximal
51L CPHHERC[S/L]SDSDGLAP 0
direct
50W CPHHER[C/W]CSDSDGLAP 1
proximal
49L CPHHE[R/L]RCSDSDGLAP 2
network-rewiring
49P CPHHE[R/P]RCSDSDGLAP 2
network-rewiring
49H CPHHE[R/H]RCSDSDGLAP 2
network-rewiring
49C CPHHE[R/C]RCSDSDGLAP 2
network-rewiring
49S CPHHE[R/S]RCSDSDGLAP 2
network-rewiring
48K CPHH[E/K]ERCSDSDGLAP 3
network-rewiring
47Q CPH[H/Q]HERCSDSDGLAP 4
distal
47L CPH[H/L]HERCSDSDGLAP 4
distal
47R CPH[H/R]HERCSDSDGLAP 4
distal
47P CPH[H/P]HERCSDSDGLAP 4
distal
47Y CPH[H/Y]HERCSDSDGLAP 4
distal
47D CPH[H/D]HERCSDSDGLAP 4
distal
47N CPH[H/N]HERCSDSDGLAP 4
distal
46Q CP[H/Q]HHERCSDSDGLAP 5
distal
46P CP[H/P]HHERCSDSDGLAP 5
distal
46D CP[H/D]HHERCSDSDGLAP 5
distal
45L C[P/L]PHHERCSDSDGLAP 6
distal
45R C[P/R]PHHERCSDSDGLAP 6
distal
45H C[P/H]PHHERCSDSDGLAP 6
distal
45S C[P/S]PHHERCSDSDGLAP 6
distal
45T C[P/T]PHHERCSDSDGLAP 6
distal
52H CPHHERCS[D/H]DSDGLAP 1
proximal

External references

dbSNP:
rs1057519991

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