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Results for the Protein: Q9HAZ2
259016328

PRD16_HUMAN RecName: Full=PR domain zinc finger protein 16; AltName: Full=PR domain-containing protein 16; AltName: Full=Transcription factor MEL1; Short=MDS1/EVI1-like gene 1

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, DILATED 1LL (CMD1LL)
  CARDIOMYOPATHY, DILATED, 1LL
  LEFT VENTRICULAR NON-COMPACTION 8 (LVNC8)
  LEFT VENTRICULAR NONCOMPACTION 8
10
2
5
2
5
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Default View:

SET - smart00317
SET - pfam00856
ZnF_C2H2 - smart00355
zf-C2H2 - pfam00096


Swiss-Prot Protein: Q9HAZ2
Identical to: NP_071397
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
zf-C2H2pfam000962.6e-05281303
zf-C2H2pfam000964.1e-07309331
zf-C2H2pfam000962.4e-07337360
zf-C2H2pfam000963e-06366388
zf-C2H2pfam000960.00014394416
zf-C2H2pfam000962.6e-05423445
zf-C2H2pfam000967.9e-08951973
zf-C2H2pfam000967.3e-079791002
zf-C2H2pfam000960.0001810081030
SETsmart003171.9e-0585210
ZnF_C2H2smart003553.6e-05281303
ZnF_C2H2smart003554e-06309331
ZnF_C2H2smart003551e-05337360
ZnF_C2H2smart003555.1e-05366388
ZnF_C2H2smart003551.6e-06951973
ZnF_C2H2smart003554.7e-069791002
ZnF_C2H2smart003550.0003110081030

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_070214Diseasep.ASN816SERLeft ventricular non-compaction 8 (LVNC8)
Swiss-ProtVAR_070212Diseasep.GLU271LYSCardiomyopathy, dilated 1LL (CMD1LL)
Swiss-ProtVAR_070215Diseasep.LEU887PROCardiomyopathy, dilated 1LL (CMD1LL)
Swiss-ProtVAR_070213Diseasep.PRO291LEUCardiomyopathy, dilated 1LL (CMD1LL)
dbSNPrs2493292 Polymorphismp.PRO633LEUN/A
dbSNPrs870124 Polymorphismp.SER533PRON/A
Swiss-ProtVAR_070216Diseasep.VAL1101METCardiomyopathy, dilated 1LL (CMD1LL)
OMIM605557.0003 Diseasep.ASN816SERLEFT VENTRICULAR NONCOMPACTION 8
OMIM605557.0006 Diseasep.LEU887PROCARDIOMYOPATHY, DILATED, 1LL
OMIM605557.0001 Diseasep.LYS702TERLEFT VENTRICULAR NONCOMPACTION 8
OMIM605557.0005 Diseasep.PRO291LEUCARDIOMYOPATHY, DILATED, 1LL
OMIM605557.0004 Diseasep.VAL1101METCARDIOMYOPATHY, DILATED, 1LL



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