MSH6 G39E

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Mutation:

Summary

Isoform:

NM_001281492

Position:

Ref:

Mutation:

PTM impact:

network-rewiring

PTM affected:

Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome I, Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal cancer type 5, Lynch syndrome

Minor Allele Frequency: (ESP6500)

[17.965]

Minor Allele Frequency: (1000 Genomes)

[20.0879]

PTM Site: 33R

Affected site:

Position: 33

Residue: R

Type: methylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
28P	RA[S/P]SREGGRAAAAPGA	5	distal
28L	RA[S/L]SREGGRAAAAPGA	5	distal
29G	RAS[R/G]REGGRAAAAPGA	4	distal
29C	RAS[R/C]REGGRAAAAPGA	4	distal
30K	RASR[E/K]EGGRAAAAPGA	3	distal
30Q	RASR[E/Q]EGGRAAAAPGA	3	distal
31C	RASRE[G/C]GGRAAAAPGA	2	proximal
32C	RASREG[G/C]GRAAAAPGA	1	proximal
32D	RASREG[G/D]GRAAAAPGA	1	proximal
32V	RASREG[G/V]GRAAAAPGA	1	proximal
33S	RASREGG[R/S]RAAAAPGA	0	direct
33C	RASREGG[R/C]RAAAAPGA	0	direct
33P	RASREGG[R/P]RAAAAPGA	0	direct
33L	RASREGG[R/L]RAAAAPGA	0	direct
34T	RASREGGR[A/T]AAAAPGA	1	proximal
34G	RASREGGR[A/G]AAAAPGA	1	proximal
34V	RASREGGR[A/V]AAAAPGA	1	proximal
35T	RASREGGRA[A/T]AAAPGA	2	proximal
35S	RASREGGRA[A/S]AAAPGA	2	proximal
35V	RASREGGRA[A/V]AAAPGA	2	proximal
36S	RASREGGRAA[A/S]AAPGA	3	distal
36V	RASREGGRAA[A/V]AAPGA	3	distal
37T	RASREGGRAAA[A/T]APGA	4	distal
37P	RASREGGRAAA[A/P]APGA	4	distal
37V	RASREGGRAAA[A/V]APGA	4	distal
38S	RASREGGRAAAA[P/S]PGA	5	distal
38L	RASREGGRAAAA[P/L]PGA	5	distal
39R	RASREGGRAAAAP[G/R]GA	6	distal
39E	RASREGGRAAAAP[G/E]GA	6	distal
39A	RASREGGRAAAAP[G/A]GA	6	distal
39V	RASREGGRAAAAP[G/V]GA	6	distal
37G	RASREGGRAAA[A/G]APGA	4	distal

PTM Site: 41S

Affected site:

Position: 41

Residue: S

Type: phosphorylation (SARS-CoV-2), phosphorylation

Only gain of PTM site:

PLK1 (probability p=0.889)

Site: 41S (phosphorylation, phosphorylation (SARS-CoV-2))

Position in motif: -2

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
35T	A[A/T]AAAPGASPSPGGDA	6	distal
35S	A[A/S]AAAPGASPSPGGDA	6	distal
35V	A[A/V]AAAPGASPSPGGDA	6	distal
36S	AA[A/S]AAPGASPSPGGDA	5	distal
36V	AA[A/V]AAPGASPSPGGDA	5	distal
37T	AAA[A/T]APGASPSPGGDA	4	distal
37P	AAA[A/P]APGASPSPGGDA	4	distal
37V	AAA[A/V]APGASPSPGGDA	4	distal
38S	AAAA[P/S]PGASPSPGGDA	3	distal
38L	AAAA[P/L]PGASPSPGGDA	3	distal
39R	AAAAP[G/R]GASPSPGGDA	2	network-rewiring
39E	AAAAP[G/E]GASPSPGGDA	2	network-rewiring
39A	AAAAP[G/A]GASPSPGGDA	2	proximal
39V	AAAAP[G/V]GASPSPGGDA	2	proximal
40T	AAAAPG[A/T]ASPSPGGDA	1	proximal
40P	AAAAPG[A/P]ASPSPGGDA	1	proximal
40S	AAAAPG[A/S]ASPSPGGDA	1	proximal
41Y	AAAAPGA[S/Y]SPSPGGDA	0	direct
41C	AAAAPGA[S/C]SPSPGGDA	0	direct
41F	AAAAPGA[S/F]SPSPGGDA	0	direct
42A	AAAAPGAS[P/A]PSPGGDA	1	network-rewiring
42S	AAAAPGAS[P/S]PSPGGDA	1	network-rewiring
42L	AAAAPGAS[P/L]PSPGGDA	1	network-rewiring
43P	AAAAPGASP[S/P]SPGGDA	2	proximal
43F	AAAAPGASP[S/F]SPGGDA	2	proximal
44T	AAAAPGASPS[P/T]PGGDA	3	distal
44L	AAAAPGASPS[P/L]PGGDA	3	distal
45S	AAAAPGASPSP[G/S]GGDA	4	distal
45R	AAAAPGASPSP[G/R]GGDA	4	distal
45A	AAAAPGASPSP[G/A]GGDA	4	distal
45V	AAAAPGASPSP[G/V]GGDA	4	distal
46R	AAAAPGASPSPG[G/R]GDA	5	distal
46E	AAAAPGASPSPG[G/E]GDA	5	distal
37G	AAA[A/G]APGASPSPGGDA	4	distal

PTM Site: 43S

Affected site:

Position: 43

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
37T	A[A/T]APGASPSPGGDAAW	6	distal
37P	A[A/P]APGASPSPGGDAAW	6	distal
37V	A[A/V]APGASPSPGGDAAW	6	distal
38S	AA[P/S]PGASPSPGGDAAW	5	distal
38L	AA[P/L]PGASPSPGGDAAW	5	distal
39R	AAP[G/R]GASPSPGGDAAW	4	distal
39E	AAP[G/E]GASPSPGGDAAW	4	distal
39A	AAP[G/A]GASPSPGGDAAW	4	distal
39V	AAP[G/V]GASPSPGGDAAW	4	distal
40T	AAPG[A/T]ASPSPGGDAAW	3	distal
40P	AAPG[A/P]ASPSPGGDAAW	3	distal
40S	AAPG[A/S]ASPSPGGDAAW	3	distal
41Y	AAPGA[S/Y]SPSPGGDAAW	2	proximal
41C	AAPGA[S/C]SPSPGGDAAW	2	proximal
41F	AAPGA[S/F]SPSPGGDAAW	2	proximal
42A	AAPGAS[P/A]PSPGGDAAW	1	proximal
42S	AAPGAS[P/S]PSPGGDAAW	1	proximal
42L	AAPGAS[P/L]PSPGGDAAW	1	proximal
43P	AAPGASP[S/P]SPGGDAAW	0	direct
43F	AAPGASP[S/F]SPGGDAAW	0	direct
44T	AAPGASPS[P/T]PGGDAAW	1	network-rewiring
44L	AAPGASPS[P/L]PGGDAAW	1	network-rewiring
45S	AAPGASPSP[G/S]GGDAAW	2	proximal
45R	AAPGASPSP[G/R]GGDAAW	2	network-rewiring
45A	AAPGASPSP[G/A]GGDAAW	2	proximal
45V	AAPGASPSP[G/V]GGDAAW	2	proximal
46R	AAPGASPSPG[G/R]GDAAW	3	distal
46E	AAPGASPSPG[G/E]GDAAW	3	network-rewiring
48T	AAPGASPSPGGD[A/T]AAW	5	distal
48P	AAPGASPSPGGD[A/P]AAW	5	distal
48G	AAPGASPSPGGD[A/G]AAW	5	distal
48V	AAPGASPSPGGD[A/V]AAW	5	distal
49V	AAPGASPSPGGDA[A/V]AW	6	distal
37G	A[A/G]APGASPSPGGDAAW	6	distal

External references

dbSNP:

rs1042821

If you have any questions or feedback about this mutation: