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Results for the Protein: Q6P4Q7
224471892

CNNM4_HUMAN RecName: Full=Metal transporter CNNM4; AltName: Full=Ancient conserved domain-containing protein 4; AltName: Full=Cyclin-M4

Known Diseases associated with this Protein:
  JALILI SYNDROME
  JALILI SYNDROME (JALIS)
9
2
5
0
6
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Default View:

TlyC - COG1253
CorB - COG4536
DUF21 - pfam01595
CorC - COG4535
CBS_pair_CorC_HlyC_a - cd04590


Swiss-Prot Protein: Q6P4Q7
Identical to: NP_064569
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TlyCCOG12533.7e-17180593
CBS_pair_CorC_HlyC_acd045901.9e-17381502
CorBCOG45366.6e-11181584
DUF21pfam015951.9e-39184358
CorCCOG45354.6e-07310572

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_058321Diseasep.ARG236GLNJalili syndrome (JALIS)
Swiss-ProtVAR_033365Polymorphismp.GLY126ARGN/A
Swiss-ProtVAR_058322Diseasep.LEU324PROJalili syndrome (JALIS)
Swiss-ProtVAR_058319Diseasep.SER196PROJalili syndrome (JALIS)
Swiss-ProtVAR_058320Diseasep.SER200TYRJalili syndrome (JALIS)
Swiss-ProtVAR_035946Polymorphismp.VAL134LEUN/A
OMIM607805.0002 Diseasep.ARG236GLNJALILI SYNDROME
OMIM607805.0004 Diseasep.GLN564TERJALILI SYNDROME
OMIM607805.0006 Diseasep.GLN717TERJALILI SYNDROME
OMIM607805.0003 Diseasep.LEU324PROJALILI SYNDROME
OMIM607805.0005 Diseasep.SER200TYRJALILI SYNDROME



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