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Summary

Isoform:
Position:
119
Ref:
A
Mutation:
G
PTM impact:
proximal
PTM affected:
3
Kinases:
SRC

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Li-Fraumeni syndrome

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 126Y

Affected site:

Position: 126
Residue: Y
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
132N AKSVTCTYSPALN[K/N]KM 6
distal
132M AKSVTCTYSPALN[K/M]KM 6
distal
132R AKSVTCTYSPALN[K/R]KM 6
distal
132T AKSVTCTYSPALN[K/T]KM 6
distal
132E AKSVTCTYSPALN[K/E]KM 6
distal
132Q AKSVTCTYSPALN[K/Q]KM 6
distal
131K AKSVTCTYSPAL[N/K]NKM 5
distal
131I AKSVTCTYSPAL[N/I]NKM 5
distal
131Y AKSVTCTYSPAL[N/Y]NKM 5
distal
130P AKSVTCTYSPA[L/P]LNKM 4
distal
130H AKSVTCTYSPA[L/H]LNKM 4
distal
130F AKSVTCTYSPA[L/F]LNKM 4
distal
130V AKSVTCTYSPA[L/V]LNKM 4
distal
129G AKSVTCTYSP[A/G]ALNKM 3
distal
129S AKSVTCTYSP[A/S]ALNKM 3
distal
129T AKSVTCTYSP[A/T]ALNKM 3
distal
128L AKSVTCTYS[P/L]PALNKM 2
proximal
128T AKSVTCTYS[P/T]PALNKM 2
proximal
127F AKSVTCTY[S/F]SPALNKM 1
proximal
127C AKSVTCTY[S/C]SPALNKM 1
proximal
127Y AKSVTCTY[S/Y]SPALNKM 1
proximal
127P AKSVTCTY[S/P]SPALNKM 1
proximal
127T AKSVTCTY[S/T]SPALNKM 1
proximal
126C AKSVTCT[Y/C]YSPALNKM 0
direct
126D AKSVTCT[Y/D]YSPALNKM 0
direct
126N AKSVTCT[Y/N]YSPALNKM 0
direct
125M AKSVTC[T/M]TYSPALNKM 1
proximal
125R AKSVTC[T/R]TYSPALNKM 1
proximal
125K AKSVTC[T/K]TYSPALNKM 1
proximal
125P AKSVTC[T/P]TYSPALNKM 1
proximal
124G AKSVT[C/G]CTYSPALNKM 2
proximal
124S AKSVT[C/S]CTYSPALNKM 2
proximal
123I AKSV[T/I]TCTYSPALNKM 3
distal
122M AKS[V/M]VTCTYSPALNKM 4
distal
121P AK[S/P]SVTCTYSPALNKM 5
distal
120E A[K/E]KSVTCTYSPALNKM 6
distal
126H AKSVTCT[Y/H]YSPALNKM 0
direct
126S AKSVTCT[Y/S]YSPALNKM 0
direct
130R AKSVTCTYSPA[L/R]LNKM 4
distal
131S AKSVTCTYSPAL[N/S]NKM 5
distal
121Y AK[S/Y]SVTCTYSPALNKM 5
distal

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