TPM1 E40K

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Mutation:

Summary

Isoform:

NM_001018006

Position:

Ref:

Mutation:

PTM impact:

distal

PTM affected:

Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Dilated cardiomyopathy 1Y

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 37K

Affected site:

Position: 37

Residue: K

Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
33A	KAA[E/A]EDRSKQLEDELV	4	distal
35K	KAAED[R/K]RSKQLEDELV	2	proximal
35S	KAAED[R/S]RSKQLEDELV	2	proximal
36G	KAAEDR[S/G]SKQLEDELV	1	proximal
36N	KAAEDR[S/N]SKQLEDELV	1	proximal
38E	KAAEDRSK[Q/E]QLEDELV	1	proximal
40K	KAAEDRSKQL[E/K]EDELV	3	distal
33G	KAA[E/G]EDRSKQLEDELV	4	distal

PTM Site: 45S

Affected site:

Position: 45

Residue: S

Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
40K	QL[E/K]EDELVSLQKKLKG	5	distal
47R	QLEDELVSL[Q/R]QKKLKG	2	network-rewiring
50I	QLEDELVSLQKK[L/I]LKG	5	distal
50F	QLEDELVSLQKK[L/F]LKG	5	distal
51T	QLEDELVSLQKKL[K/T]KG	6	distal
51R	QLEDELVSLQKKL[K/R]KG	6	distal

External references

dbSNP:

rs104894501

If you have any questions or feedback about this mutation: