FLNA A39S

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Mutation:

Summary

Isoform:

NM_001110556

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)

Periventricular nodular heterotopia 1

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 33K

Affected site:

Position: 33

Residue: K

Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
39G	AEMPATEKDLAED[A/G]AP	6	distal
39S	AEMPATEKDLAED[A/S]AP	6	distal
32G	AEMPAT[E/G]EKDLAEDAP	1	proximal
28I	AE[M/I]MPATEKDLAEDAP	5	distal
28V	AE[M/V]MPATEKDLAEDAP	5	distal

PTM Site: 42K

Affected site:

Position: 42

Residue: K

Type: ubiquitination, methylation, acetylation

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
43N	LAEDAPWK[K/N]KIQQNTF	1	proximal
42R	LAEDAPW[K/R]KKIQQNTF	0	direct
39G	LAED[A/G]APWKKIQQNTF	3	distal
39S	LAED[A/S]APWKKIQQNTF	3	distal

PTM Site: 43K

Affected site:

Position: 43

Residue: K

Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation	In sequence	Distance	Impact
43N	AEDAPWK[K/N]KIQQNTFT	0	direct
42R	AEDAPW[K/R]KKIQQNTFT	1	proximal
39G	AED[A/G]APWKKIQQNTFT	4	distal
39S	AED[A/S]APWKKIQQNTFT	4	distal

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