MSH6 P42S

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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, Hereditary cancer-predisposing syndrome

Minor Allele Frequency: (ESP6500)

[0.0086]

Minor Allele Frequency: (1000 Genomes)

[0.09984029999999999]

PTM Site: 41S

Affected site:

Position: 41

Residue: S

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

Best loss of PTM site:

MAPK1 (probability p=0.957)

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

Position in motif: 1

There are 7 other predicted losses:

MAPK3 (p=0.954)
MAPK14 (p=0.938)
MAPK7 (p=0.937)
CDK1 (p=0.918)
CDK5 (p=0.909)
GSK3B (p=0.906)
HIPK2 (p=0.882)

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:

proximal

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:

rs34014629

If you have any questions or feedback about this mutation: