CYLD I391T

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Mutation:

Summary

Isoform:

NM_015247

Position:

391

Ref:

Mutation:

PTM impact:

proximal

PTM affected:

Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Cylindromatosis, familial, Brooke-Spiegler syndrome, Familial multiple trichoepitheliomata

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

[0.0399361]

PTM Site: 387S

Affected site:

Position: 387

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
389R	VAEDPAKSL[T/R]TEISTD	2	network-rewiring
391T	VAEDPAKSLTE[I/T]ISTD	4	distal
393A	VAEDPAKSLTEIS[T/A]TD	6	distal
390V	VAEDPAKSLT[E/V]EISTD	3	network-rewiring
388F	VAEDPAKS[L/F]LTEISTD	1	network-rewiring
393I	VAEDPAKSLTEIS[T/I]TD	6	distal

PTM Site: 389T

Affected site:

Position: 389

Residue: T

Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
389R	EDPAKSL[T/R]TEISTDFD	0	direct
391T	EDPAKSLTE[I/T]ISTDFD	2	proximal
393A	EDPAKSLTEIS[T/A]TDFD	4	distal
390V	EDPAKSLT[E/V]EISTDFD	1	proximal
388F	EDPAKS[L/F]LTEISTDFD	1	proximal
393I	EDPAKSLTEIS[T/I]TDFD	4	distal

PTM Site: 393T

Affected site:

Position: 393

Residue: T

Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
389R	KSL[T/R]TEISTDFDRSSP	4	distal
391T	KSLTE[I/T]ISTDFDRSSP	2	proximal
397C	KSLTEISTDFD[R/C]RSSP	4	distal
397H	KSLTEISTDFD[R/H]RSSP	4	distal
398A	KSLTEISTDFDR[S/A]SSP	5	distal
393A	KSLTEIS[T/A]TDFDRSSP	0	direct
390V	KSLT[E/V]EISTDFDRSSP	3	distal
388F	KS[L/F]LTEISTDFDRSSP	5	distal
393I	KSLTEIS[T/I]TDFDRSSP	0	direct

External references

dbSNP:

rs138976689

If you have any questions or feedback about this mutation: