ALG2 R378H

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Mutation:

Summary

Isoform:

NM_033087

Position:

378

Ref:

Mutation:

PTM impact:

distal

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: 375K

Affected site:

Position: 375

Residue: K

Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
378C	HFSEAIEKFI[R/C]REPSL	3	distal
378H	HFSEAIEKFI[R/H]REPSL	3	distal
381F	HFSEAIEKFIREP[S/F]SL	6	distal

PTM Site: 381S

Affected site:

Position: 381

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
386V	EKFIREPSLKAT[M/V]MGL	5	distal
384T	EKFIREPSLK[A/T]ATMGL	3	distal
378C	EKFI[R/C]REPSLKATMGL	3	distal
378H	EKFI[R/H]REPSLKATMGL	3	distal
381F	EKFIREP[S/F]SLKATMGL	0	direct

PTM Site: 383K

Affected site:

Position: 383

Residue: K

Type: methylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
386V	FIREPSLKAT[M/V]MGLAG	3	distal
384T	FIREPSLK[A/T]ATMGLAG	1	proximal
378C	FI[R/C]REPSLKATMGLAG	5	distal
378H	FI[R/H]REPSLKATMGLAG	5	distal
381F	FIREP[S/F]SLKATMGLAG	2	proximal

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