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Results for the Protein: O43707
13123943
81

ACTN4_HUMAN RecName: Full=Alpha-actinin-4; AltName: Full=F-actin cross-linking protein; AltName: Full=Non-muscle alpha-actinin 4

Known Diseases associated with this Protein:
  FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1
  FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 (FSGS1)
6
0
3
0
3
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

SAC6 - COG5069
CH - cd00014
CH - pfam00307
CH - smart00033
CAMSAP_CH - pfam11971
Spectrin - pfam00435
SPEC - cd00176
SPEC - smart00150
FRQ1 - COG5126
EFh - smart00054
efhand - pfam00036
EFh - cd00051
efhand_Ca_insen - pfam08726


Swiss-Prot Protein: O43707
Identical to: NP_004915
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CHcd000142.7e-2851154
CHcd000141.2e-35164269
SPECcd001761.1e-16294520
SPECcd001766.8e-27529754
EFhcd000516.5e-18769836
SAC6COG50691.4e-4143621
CHpfam003072.8e-3151154
CHpfam003072e-37164269
Spectrinpfam004351.1e-16293403
Spectrinpfam004351.2e-29413518
Spectrinpfam004354.4e-16528639
Spectrinpfam004353.8e-16649752
FRQ1COG51260.00028752911
efhandpfam000360.00041769797
CHsmart000333.9e-2752152
CHsmart000336.6e-27165264
CAMSAP_CHpfam119715.3e-12173249
SPECsmart001503.3e-24416517
SPECsmart001503e-13531638
EFhsmart000549.4e-05769797
EFhsmart000545.5e-05810838
efhand_Ca_insenpfam087265.9e-40841907

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_010378Diseasep.LYS255GLUFocal segmental glomerulosclerosis 1 (FSGS1)
Swiss-ProtVAR_010380Diseasep.SER262PROFocal segmental glomerulosclerosis 1 (FSGS1)
Swiss-ProtVAR_010379Diseasep.THR259ILEFocal segmental glomerulosclerosis 1 (FSGS1)
OMIM604638.0001 Diseasep.LYS228GLUFOCAL SEGMENTAL GLOMERULOSCLEROSIS 1
OMIM604638.0003 Diseasep.SER235PROFOCAL SEGMENTAL GLOMERULOSCLEROSIS 1
OMIM604638.0002 Diseasep.THR232ILEFOCAL SEGMENTAL GLOMERULOSCLEROSIS 1



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