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Results for the Protein: NP_001193775
332205965

abnormal spindle-like microcephaly-associated protein isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE
5
5
5
5
0
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Default View:

CH - smart00033
CAMSAP_CH - pfam11971
IQ - pfam00612
IQ - smart00015




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
IQpfam006120.0001113701390
IQpfam006128.5e-0514451465
IQpfam006122.4e-0514951515
CHsmart000330.000159221054
CHsmart000330.00111121256
CAMSAP_CHpfam119711.6e-2711191200
IQsmart000150.000114931515

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs61995747 Polymorphismp.ALA75PRON/A
dbSNPrs6428388 Polymorphismp.ARG430GLYN/A
dbSNPrs77736715 Polymorphismp.CYS302TYRN/A
dbSNPrs7528827 Polymorphismp.HIS1673ARGN/A
dbSNPrs16841081 Polymorphismp.SER1090PHEN/A
OMIM605481.0007 Diseasep.ARG117TERMICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE
OMIM605481.0010 Diseasep.ARG797TERMICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE
OMIM605481.0005 Diseasep.GLN1475TERMICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE
OMIM605481.0006 Diseasep.TRP1326TERMICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE
OMIM605481.0008 Diseasep.TYR1TERMICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE



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