NT5C2 T510P

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Mutation:

Summary

Isoform:

NM_012229

Position:

510

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 45, autosomal recessive

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 510T

Affected site:

Position: 510

Residue: T

Type: phosphorylation

Impact:

direct

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
510P	PLATRNR[T/P]TSVDFKDT	0	direct
510I	PLATRNR[T/I]TSVDFKDT	0	direct
512L	PLATRNRTS[V/L]VDFKDT	2	proximal
509C	PLATRN[R/C]RTSVDFKDT	1	proximal

PTM Site: 511S

Affected site:

Position: 511

Residue: S

Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
510P	LATRNR[T/P]TSVDFKDTD	1	proximal
510I	LATRNR[T/I]TSVDFKDTD	1	proximal
512L	LATRNRTS[V/L]VDFKDTD	1	proximal
509C	LATRN[R/C]RTSVDFKDTD	2	network-rewiring

PTM Site: 515K

Affected site:

Position: 515

Residue: K

Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
510P	NR[T/P]TSVDFKDTDYKRH	5	distal
510I	NR[T/I]TSVDFKDTDYKRH	5	distal
512L	NRTS[V/L]VDFKDTDYKRH	3	distal
509C	N[R/C]RTSVDFKDTDYKRH	6	distal

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