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Results for the Protein: P12814
46397817
87

ACTN1_HUMAN RecName: Full=Alpha-actinin-1; AltName: Full=Alpha-actinin cytoskeletal isoform; AltName: Full=F-actin cross-linking protein; AltName: Full=Non-muscle alpha-actinin-1

Known Diseases associated with this Protein:
  BLEEDING DISORDER, PLATELET-TYPE 15 (BDPLT15)
  BLEEDING DISORDER, PLATELET-TYPE, 15
12
3
6
0
9
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
EFh - smart00054
EFh - cd00051
efhand - pfam00036
efhand_Ca_insen - pfam08726


Swiss-Prot Protein: P12814
Identical to: NP_001093
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CHcd000142.6e-2632135
CHcd000144e-35145250
SPECcd001765.8e-44395622
EFhcd000512.8e-19750817
SAC6COG50697.5e-3824602
CHpfam003074.4e-3032135
CHpfam003071.3e-36145250
Spectrinpfam004352e-14274384
Spectrinpfam004351.6e-33394499
Spectrinpfam004352.8e-19509620
Spectrinpfam004356.2e-15630733
efhandpfam000364.8e-06750778
CHsmart000337.4e-2533133
CHsmart000331.1e-26146245
CAMSAP_CHpfam119711.5e-11154230
SPECsmart001502.2e-26397498
SPECsmart001506.2e-07512619
EFhsmart000548.1e-07750778
efhand_Ca_insenpfam087263.1e-40822888

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069911Diseasep.ARG46GLNBleeding disorder, platelet-type 15 (BDPLT15)
Swiss-ProtVAR_069916Diseasep.ARG752GLNBleeding disorder, platelet-type 15 (BDPLT15)
Swiss-ProtVAR_069913Polymorphismp.ARG197TRPN/A
Swiss-ProtVAR_069915Diseasep.ARG738TRPBleeding disorder, platelet-type 15 (BDPLT15)
Swiss-ProtVAR_053883Polymorphismp.ASN707THRN/A
Swiss-ProtVAR_069910Diseasep.GLN32LYSBleeding disorder, platelet-type 15 (BDPLT15)
Swiss-ProtVAR_069914Diseasep.GLU225LYSBleeding disorder, platelet-type 15 (BDPLT15)
Swiss-ProtVAR_053884Polymorphismp.THR868SERN/A
Swiss-ProtVAR_069912Diseasep.VAL105ILEBleeding disorder, platelet-type 15 (BDPLT15)
OMIM102575.0004 Diseasep.ARG46GLNBLEEDING DISORDER, PLATELET-TYPE, 15
OMIM102575.0003 Diseasep.ARG752GLNBLEEDING DISORDER, PLATELET-TYPE, 15
OMIM102575.0005 Diseasep.ARG738TRPBLEEDING DISORDER, PLATELET-TYPE, 15
OMIM102575.0002 Diseasep.GLN32LYSBLEEDING DISORDER, PLATELET-TYPE, 15
OMIM102575.0006 Diseasep.GLU225LYSBLEEDING DISORDER, PLATELET-TYPE, 15
OMIM102575.0001 Diseasep.VAL105ILEBLEEDING DISORDER, PLATELET-TYPE, 15



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