NSMCE3 G217R

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Mutation:

Summary

Isoform:

NM_138704

Position:

217

Ref:

Mutation:

PTM impact:

distal

PTM affected:

Kinases:

Clinical Information

Cancer types: (TCGA MC3)

READ

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

no data

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 211K

Affected site:

Position: 211

Residue: K

Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
209L	RLGVY[P/L]PTKKHLIFGD	2	proximal
208S	RLGV[Y/S]YPTKKHLIFGD	3	distal
207I	RLG[V/I]VYPTKKHLIFGD	4	distal
217R	RLGVYPTKKHLIF[G/R]GD	6	distal
216L	RLGVYPTKKHLI[F/L]FGD	5	distal
211N	RLGVYPT[K/N]KKHLIFGD	0	direct

PTM Site: 212K

Affected site:

Position: 212

Residue: K

Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
209L	LGVY[P/L]PTKKHLIFGDP	3	distal
208S	LGV[Y/S]YPTKKHLIFGDP	4	distal
207I	LG[V/I]VYPTKKHLIFGDP	5	distal
217R	LGVYPTKKHLIF[G/R]GDP	5	distal
216L	LGVYPTKKHLI[F/L]FGDP	4	distal
211N	LGVYPT[K/N]KKHLIFGDP	1	proximal

PTM Site: 220K

Affected site:

Position: 220

Residue: K

Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
226G	HLIFGDPKKLITE[D/G]DF	6	distal
217R	HLIF[G/R]GDPKKLITEDF	3	distal
216L	HLI[F/L]FGDPKKLITEDF	4	distal

PTM Site: 221K

Affected site:

Position: 221

Residue: K

Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
226G	LIFGDPKKLITE[D/G]DFV	5	distal
217R	LIF[G/R]GDPKKLITEDFV	4	distal
216L	LI[F/L]FGDPKKLITEDFV	5	distal
227V	LIFGDPKKLITED[F/V]FV	6	distal

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