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Results for the Protein: Q7L5A8
74749893

FA2H_HUMAN RecName: Full=Fatty acid 2-hydroxylase; AltName: Full=Fatty acid alpha-hydroxylase

Known Diseases associated with this Protein:
  SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE
  SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (SPG35)
7
2
4
2
3
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Default View:

Cyt-b5 - pfam00173
FA_hydroxylase - pfam04116


Swiss-Prot Protein: Q7L5A8
Identical to: NP_077282
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Cyt-b5pfam001731.2e-131186
FA_hydroxylasepfam041161.3e-17219341

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065245Diseasep.ARG154CYSSpastic paraplegia 35, autosomal recessive (SPG35)
Swiss-ProtVAR_064621Diseasep.ARG235CYSSpastic paraplegia 35, autosomal recessive (SPG35)
Swiss-ProtVAR_054893Diseasep.ASP35TYRSpastic paraplegia 35, autosomal recessive (SPG35)
dbSNPrs35874850 Polymorphismp.PRO97ALAN/A
dbSNPrs199659429 Polymorphismp.VAL134GLYN/A
OMIM611026.0005 Diseasep.ARG154CYSSPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE
OMIM611026.0003 Diseasep.ARG235CYSSPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE
OMIM611026.0002 Diseasep.ASP35TYRSPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE
OMIM611026.0007 Diseasep.PHE236SERSPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE



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