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Results for the Protein: Q96FG2
313104101

ELMD3_HUMAN RecName: Full=ELMO domain-containing protein 3; AltName: Full=RNA-binding motif and ELMO domain-containing protein 1; AltName: Full=RNA-binding motif protein 29; AltName: Full=RNA-binding protein 29

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL RECESSIVE 88 (1 FAMILY)
  DEAFNESS, AUTOSOMAL RECESSIVE, 88 (DFNB88)
2
4
1
4
1
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Default View:

ELMO_CED12 - pfam04727




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ELMO_CED12pfam047271.9e-53151314

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs7564372 Polymorphismp.ARG66CYSN/A
dbSNPrs17850709 Polymorphismp.ARG325LEUN/A
Swiss-ProtVAR_070125Diseasep.LEU265SERDeafness, autosomal recessive, 88 (DFNB88)
dbSNPrs78809694 Polymorphismp.SER105GLYN/A
dbSNPrs955592 Polymorphismp.THR70ILEN/A
OMIM615427.0001 Diseasep.LEU265SERDEAFNESS, AUTOSOMAL RECESSIVE 88 (1 family)



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