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You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020
Mutation:

TSC1 V674G

Summary

Isoform:
NM_000368
Position:
674
Ref:
V
Mutation:
G
PTM impact:
proximal
PTM affected:
2
Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Tuberous sclerosis 1

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 672K

Affected site:

Position: 672
Residue: K
Type: ubiquitination

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
678L NKLPLPSKSVDWT[H/L]HF 6
distal
678R NKLPLPSKSVDWT[H/R]HF 6
distal
678Y NKLPLPSKSVDWT[H/Y]HF 6
distal
677I NKLPLPSKSVDW[T/I]THF 5
distal
676R NKLPLPSKSVD[W/R]WTHF 4
distal
675Y NKLPLPSKSV[D/Y]DWTHF 3
distal
675N NKLPLPSKSV[D/N]DWTHF 3
distal
674G NKLPLPSKS[V/G]VDWTHF 2
proximal
674I NKLPLPSKS[V/I]VDWTHF 2
proximal
673Y NKLPLPSK[S/Y]SVDWTHF 1
proximal
669S NKLP[L/S]LPSKSVDWTHF 3
distal
666R N[K/R]KLPLPSKSVDWTHF 6
distal
675G NKLPLPSKSV[D/G]DWTHF 3
distal
673F NKLPLPSK[S/F]SVDWTHF 1
proximal

PTM Site: 673S

Affected site:

Position: 673
Residue: S
Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
678L KLPLPSKSVDWT[H/L]HFG 5
distal
678R KLPLPSKSVDWT[H/R]HFG 5
distal
678Y KLPLPSKSVDWT[H/Y]HFG 5
distal
677I KLPLPSKSVDW[T/I]THFG 4
distal
676R KLPLPSKSVD[W/R]WTHFG 3
distal
675Y KLPLPSKSV[D/Y]DWTHFG 2
network-rewiring
675N KLPLPSKSV[D/N]DWTHFG 2
network-rewiring
674G KLPLPSKS[V/G]VDWTHFG 1
proximal
674I KLPLPSKS[V/I]VDWTHFG 1
proximal
673Y KLPLPSK[S/Y]SVDWTHFG 0
direct
669S KLP[L/S]LPSKSVDWTHFG 4
distal
675G KLPLPSKSV[D/G]DWTHFG 2
proximal
673F KLPLPSK[S/F]SVDWTHFG 0
direct

External references

dbSNP:
rs1588305911

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