EPS15L1 S689W

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Mutation:

Summary

Isoform:

NM_001258374

Position:

689

Ref:

Mutation:

PTM impact:

direct

PTM affected:

Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

no data

Minor Allele Frequency: (ESP6500)

[0.0077]

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 683K

Affected site:

Position: 683

Residue: K

Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
689W	DFFKKQTKNDPFT[S/W]SD	6	distal
689L	DFFKKQTKNDPFT[S/L]SD	6	distal

PTM Site: 689S

Affected site:

Position: 689

Residue: S

Type: phosphorylation

Impact:

direct

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
689W	TKNDPFT[S/W]SDPFTKNP	0	direct
693M	TKNDPFTSDPF[T/M]TKNP	4	distal
690Y	TKNDPFTS[D/Y]DPFTKNP	1	proximal
689L	TKNDPFT[S/L]SDPFTKNP	0	direct

PTM Site: 694K

Affected site:

Position: 694

Residue: K

Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
689W	FT[S/W]SDPFTKNPSLPSK	5	distal
693M	FTSDPF[T/M]TKNPSLPSK	1	proximal
690Y	FTS[D/Y]DPFTKNPSLPSK	4	distal
699S	FTSDPFTKNPSL[P/S]PSK	5	distal
698F	FTSDPFTKNPS[L/F]LPSK	4	distal
689L	FT[S/L]SDPFTKNPSLPSK	5	distal

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