EXOSC2 G30V

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Mutation:

Summary

Isoform:

NM_014285

Position:

Ref:

Mutation:

PTM impact:

proximal

PTM affected:

Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 24K

Affected site:

Position: 24

Residue: K

Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
30V	RLGRDTKKHLVVP[G/V]GD	6	distal
20C	RLG[R/C]RDTKKHLVVPGD	4	distal

PTM Site: 32T

Affected site:

Position: 32

Residue: T

Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
30V	HLVVP[G/V]GDTITTDTGF	2	proximal
31N	HLVVPG[D/N]DTITTDTGF	1	proximal
31Y	HLVVPG[D/Y]DTITTDTGF	1	proximal

PTM Site: 37T

Affected site:

Position: 37

Residue: T

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
31N	G[D/N]DTITTDTGFMRGHG	6	distal
43R	GDTITTDTGFMRG[H/R]HG	6	distal
31Y	G[D/Y]DTITTDTGFMRGHG	6	distal

External references

dbSNP:

rs537467155

If you have any questions or feedback about this mutation: