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Mutation:

EPS15L1 S712L

Summary

Isoform:
NM_001258374
Position:
712
Ref:
S
Mutation:
L
PTM impact:
direct
PTM affected:
7
Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

Cervix-SCC

Disease Annotations: (ClinVar)

no data

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 707S

Affected site:

Position: 707
Residue: S
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
701R S[K/R]KLDPFESSDPFSSS 6
distal
712L SKLDPFESSDPF[S/L]SSS 5
distal
707C SKLDPFE[S/C]SSDPFSSS 0
direct

PTM Site: 708S

Affected site:

Position: 708
Residue: S
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
712L KLDPFESSDPF[S/L]SSSS 4
distal
707C KLDPFE[S/C]SSDPFSSSS 1
proximal

PTM Site: 712S

Affected site:

Position: 712
Residue: S
Type: phosphorylation

Impact:

direct

Other known mutations affecting this site

Mutation In sequence Distance Impact
712L FESSDPF[S/L]SSSSVSSK 0
direct
707C FE[S/C]SSDPFSSSSVSSK 5
distal

PTM Site: 714S

Affected site:

Position: 714
Residue: S
Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
712L SSDPF[S/L]SSSSVSSKGS 2
proximal

PTM Site: 717S

Affected site:

Position: 717
Residue: S
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
723L PFSSSSVSSKGSD[P/L]PF 6
distal
712L PF[S/L]SSSSVSSKGSDPF 5
distal

PTM Site: 718S

Affected site:

Position: 718
Residue: S
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
723L FSSSSVSSKGSD[P/L]PFG 5
distal
712L F[S/L]SSSSVSSKGSDPFG 6
distal

PTM Site: 719K

Affected site:

Position: 719
Residue: K
Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
723L SSSSVSSKGSD[P/L]PFGT 4
distal

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