SCO2 R20P

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Mutation:

Summary

Isoform:

NM_005138

Position:

Ref:

Mutation:

PTM impact:

distal

PTM affected:

Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Mitochondrial DNA depletion syndrome 1 (MNGIE type), Mitochondrial complex IV deficiency, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Fatal Infantile Cardioencephalomyopathy

Minor Allele Frequency: (ESP6500)

[36.9307]

Minor Allele Frequency: (1000 Genomes)

[65.1558]

PTM Site: 15S

Affected site:

Position: 15

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
20P	PTAWHRLSQLKP[R/P]RVL	5	distal
18N	PTAWHRLSQL[K/N]KPRVL	3	distal

External references

dbSNP:

rs140523

If you have any questions or feedback about this mutation: