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Results for the Protein: Q96DW6
74751821

S2538_HUMAN RecName: Full=Solute carrier family 25 member 38

Known Diseases associated with this Protein:
  ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
  ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE (PRARSA)
7
1
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0
5
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Mito_carr - pfam00153


Swiss-Prot Protein: Q96DW6
Identical to: NP_060345
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Mito_carrpfam001536.5e-2323118
Mito_carrpfam001532.8e-20119210
Mito_carrpfam001533e-18213304

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_032862Polymorphismp.ARG66GLYN/A
Swiss-ProtVAR_058094Diseasep.ARG134HISAnemia, sideroblastic, pyridoxine-refractory, autosomal recessive (PRARSA)
Swiss-ProtVAR_058095Diseasep.ARG187PROAnemia, sideroblastic, pyridoxine-refractory, autosomal recessive (PRARSA)
Swiss-ProtVAR_058096Diseasep.ASP209HISAnemia, sideroblastic, pyridoxine-refractory, autosomal recessive (PRARSA)
Swiss-ProtVAR_058093Diseasep.GLY130GLUAnemia, sideroblastic, pyridoxine-refractory, autosomal recessive (PRARSA)
OMIM610819.0003 Diseasep.ARG187PROANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
OMIM610819.0001 Diseasep.ARG117TERANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE
OMIM610819.0005 Diseasep.LYS264TERANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE



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