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Mutation:

TMPO S166Y

Summary

Isoform:
NM_001032283
Position:
166
Ref:
S
Mutation:
Y
PTM impact:
direct
PTM affected:
7
Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Loeys-Dietz syndrome 2

Minor Allele Frequency: (ESP6500)

[0.0077]

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 159S

Affected site:

Position: 159
Residue: S
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
159F QGTESRS[S/F]STPLPTIS 0
direct

PTM Site: 160T

Affected site:

Position: 160
Residue: T
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
166Y GTESRSSTPLPTI[S/Y]SS 6
distal
166C GTESRSSTPLPTI[S/C]SS 6
distal
159F GTESRS[S/F]STPLPTISS 1
proximal

PTM Site: 164T

Affected site:

Position: 164
Residue: T
Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
166Y RSSTPLPTI[S/Y]SSSAEN 2
proximal
166C RSSTPLPTI[S/C]SSSAEN 2
proximal
159F RS[S/F]STPLPTISSSAEN 5
distal
170Q RSSTPLPTISSSA[E/Q]EN 6
distal

PTM Site: 166S

Affected site:

Position: 166
Residue: S
Type: phosphorylation

Impact:

direct

Other known mutations affecting this site

Mutation In sequence Distance Impact
166Y STPLPTI[S/Y]SSSAENTR 0
direct
166C STPLPTI[S/C]SSSAENTR 0
direct
170Q STPLPTISSSA[E/Q]ENTR 4
distal

PTM Site: 167S

Affected site:

Position: 167
Residue: S
Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
166Y TPLPTI[S/Y]SSSAENTRQ 1
proximal
166C TPLPTI[S/C]SSSAENTRQ 1
proximal
170Q TPLPTISSSA[E/Q]ENTRQ 3
network-rewiring

PTM Site: 168S

Affected site:

Position: 168
Residue: S
Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
166Y PLPTI[S/Y]SSSAENTRQN 2
proximal
166C PLPTI[S/C]SSSAENTRQN 2
proximal
170Q PLPTISSSA[E/Q]ENTRQN 2
proximal
174H PLPTISSSAENTR[Q/H]QN 6
distal

PTM Site: 172T

Affected site:

Position: 172
Residue: T
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
166Y I[S/Y]SSSAENTRQNGSND 6
distal
166C I[S/C]SSSAENTRQNGSND 6
distal
177G ISSSAENTRQNG[S/G]SND 5
distal
170Q ISSSA[E/Q]ENTRQNGSND 2
network-rewiring
174H ISSSAENTR[Q/H]QNGSND 2
proximal

External references

dbSNP:
rs147012167

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