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Results for the Protein: Q9Y4J8
229462840

DTNA_HUMAN RecName: Full=Dystrobrevin alpha; Short=DTN-A; AltName: Full=Alpha-dystrobrevin; AltName: Full=Dystrophin-related protein 3

Known Diseases associated with this Protein:
  LEFT VENTRICULAR NON-COMPACTION 1 (LVNC1)
  LEFT VENTRICULAR NONCOMPACTION 1
2
1
1
0
2
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:

efhand_1 - pfam09068
efhand_2 - pfam09069
ZZ - pfam00569
ZnF_ZZ - smart00291
ZZ_PCMF_like - cd02338
ZZ_dah - cd02345
ZZ_ZZZ3 - cd02341
ZZ_dystrophin - cd02334
ZZ_ADA2 - cd02335
ZZ_Mind_bomb - cd02339
ZZ_NBR1_like - cd02340
ZZ - cd02249


Swiss-Prot Protein: Q9Y4J8
Identical to: NP_001381
   Default View:












Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ZZcd022491.8e-09241289
ZZ_dystrophincd023349.2e-28241289
ZZ_ADA2cd023351.4e-05241289
ZZ_Mind_bombcd023390.00031241289
ZZ_NBR1_likecd023401e-05241289
ZZ_ZZZ3cd023410.00055241289
ZZ_dahcd023451.9e-08241289
ZZ_PCMF_likecd023382.4e-06241289
ZZpfam005692.9e-08237282
efhand_1pfam090682.6e-6614140
efhand_2pfam090691.8e-52144232
ZnF_ZZsmart002911.6e-18237281

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_055320Polymorphismp.ALA180GLUN/A
Swiss-ProtVAR_026744Diseasep.PRO121LEULeft ventricular non-compaction 1 (LVNC1)
OMIM601239.0001 Diseasep.PRO121LEULEFT VENTRICULAR NONCOMPACTION 1



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