TPM1 L50F

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Mutation:

Summary

Isoform:

NM_001018006

Position:

Ref:

Mutation:

PTM impact:

proximal

PTM affected:

Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Hypertrophic cardiomyopathy

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

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

PTM Site: 48K

Affected site:

Position: 48

Residue: K

Type: ubiquitination

Impact:

proximal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
47R	DELVSL[Q/R]QKKLKGTED	1	proximal
50I	DELVSLQKK[L/I]LKGTED	2	proximal
50F	DELVSLQKK[L/F]LKGTED	2	proximal
51T	DELVSLQKKL[K/T]KGTED	3	distal
51R	DELVSLQKKL[K/R]KGTED	3	distal
52S	DELVSLQKKLK[G/S]GTED	4	distal
54K	DELVSLQKKLKGT[E/K]ED	6	distal

External references

dbSNP:

rs1060501866

If you have any questions or feedback about this mutation: