AMPD2 Y79C

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Mutation:

Summary

Isoform:

NM_001257361

Position:

Ref:

Mutation:

PTM impact:

direct

PTM affected:

Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Spastic paraplegia 63, autosomal recessive

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

[0.059904200000000005]

PTM Site: 72S

Affected site:

Position: 72

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact

PTM Site: 74S

Affected site:

Position: 74

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
79C	FLKTDSDSDLQL[Y/C]YKE	5	distal

PTM Site: 79Y

Affected site:

Position: 79

Residue: Y

Type: phosphorylation

Impact:

direct

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
79C	SDSDLQL[Y/C]YKEQGEGQ	0	direct
82R	SDSDLQLYKE[Q/R]QGEGQ	3	distal
83C	SDSDLQLYKEQ[G/C]GEGQ	4	distal
84D	SDSDLQLYKEQG[E/D]EGQ	5	distal

PTM Site: 80K

Affected site:

Position: 80

Residue: K

Type: ubiquitination

Impact:

proximal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
79C	DSDLQL[Y/C]YKEQGEGQG	1	proximal
82R	DSDLQLYKE[Q/R]QGEGQG	2	proximal
83C	DSDLQLYKEQ[G/C]GEGQG	3	distal
84D	DSDLQLYKEQG[E/D]EGQG	4	distal

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