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Results for the Protein: O15270
6685580

SPTC2_HUMAN RecName: Full=Serine palmitoyltransferase 2; AltName: Full=Long chain base biosynthesis protein 2; Short=LCB 2; AltName: Full=Long chain base biosynthesis protein 2a; Short=LCB2a; AltName: Full=Serine-palmitoyl-CoA transferase 2; Short=SPT 2

Known Diseases associated with this Protein:
  NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, 1C (HSAN1C)
  NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE
  NEUROPATHY, HEREDITARY SENSORY, TYPE IC
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1
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Default View:

BioF - COG0156
csdA - COG0520
Aminotran_1_2 - pfam00155
KBL_like - cd06454
AAT_I - cd01494


Swiss-Prot Protein: O15270
Identical to: NP_004854
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
csdACOG05204.3e-06165537
KBL_likecd064543.3e-210168532
AAT_Icd014945.6e-08215391
Aminotran_1_2pfam001551.1e-64168528

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069525Diseasep.ALA182PRONeuropathy, hereditary sensory and autonomic, 1C (HSAN1C)
dbSNPrs75565823 Polymorphismp.GLY169ALAN/A
Swiss-ProtVAR_064799Diseasep.GLY382VALNeuropathy, hereditary sensory and autonomic, 1C (HSAN1C)
Swiss-ProtVAR_064800Diseasep.ILE504PHENeuropathy, hereditary sensory and autonomic, 1C (HSAN1C)
Swiss-ProtVAR_064798Diseasep.VAL359METNeuropathy, hereditary sensory and autonomic, 1C (HSAN1C)
OMIM605713.0001 Diseasep.GLY382VALNEUROPATHY, HEREDITARY SENSORY, TYPE IC
OMIM605713.0003 Diseasep.ILE504PHENEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE
OMIM605713.0002 Diseasep.VAL359METNEUROPATHY, HEREDITARY SENSORY, TYPE IC



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