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Results for the Protein: Q7RTS9
68565365
DYM

DYM_HUMAN RecName: Full=Dymeclin; AltName: Full=Dyggve-Melchior-Clausen syndrome protein

Known Diseases associated with this Protein:
  DYGGVE-MELCHIOR-CLAUSEN DISEASE
  DYGGVE-MELCHIOR-CLAUSEN SYNDROME (DMC)
  SMITH-MCCORT DYSPLASIA 1
  SMITH-MCCORT DYSPLASIA 1 (SMC1)
8
0
5
0
3
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Dymeclin - pfam09742


Swiss-Prot Protein: Q7RTS9
Identical to: NP_060123
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Dymeclinpfam0974212668

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_054499Diseasep.ASN469TYRDyggve-Melchior-Clausen syndrome (DMC)
Swiss-ProtVAR_065293Diseasep.CYS542ARGSmith-McCort dysplasia 1 (SMC1)
Swiss-ProtVAR_022740Diseasep.GLU87LYSSmith-McCort dysplasia 1 (SMC1)
OMIM607461.0004 Diseasep.ASN469TYRDYGGVE-MELCHIOR-CLAUSEN DISEASE
OMIM607461.0010 Diseasep.CYS542ARGSMITH-McCORT DYSPLASIA 1
OMIM607461.0006 Diseasep.GLU87LYSSMITH-MCCORT DYSPLASIA 1
OMIM607461.0003 Diseasep.TYR132TERDYGGVE-MELCHIOR-CLAUSEN DISEASE
OMIM607461.0001 Diseasep.TYR16TERDYGGVE-MELCHIOR-CLAUSEN DISEASE



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