LDHB K7E

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Mutation:

Summary

Isoform:

NM_002300

Position:

Ref:

Mutation:

PTM impact:

direct

PTM affected:

Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Lactate dehydrogenase B deficiency

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 2A

Affected site:

Position: 2

Residue: A

Type: acetylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
7E	------MATLKE[K/E]KLI	5	distal
8F	------MATLKEK[L/F]LI	6	distal
2T	------M[A/T]ATLKEKLI	0	direct

PTM Site: 5K

Affected site:

Position: 5

Residue: K

Type: ubiquitination

Impact:

proximal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
7E	---MATLKE[K/E]KLIAPV	2	proximal
8F	---MATLKEK[L/F]LIAPV	3	distal
2T	---M[A/T]ATLKEKLIAPV	3	distal

PTM Site: 7K

Affected site:

Position: 7

Residue: K

Type: acetylation, ubiquitination

Impact:

direct

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
7E	-MATLKE[K/E]KLIAPVAE	0	direct
8F	-MATLKEK[L/F]LIAPVAE	1	proximal
2T	-M[A/T]ATLKEKLIAPVAE	5	distal

External references

dbSNP:

rs118203897

If you have any questions or feedback about this mutation: