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Results for the Protein: O95170
322510135

CDRT1_HUMAN RecName: Full=CMT1A duplicated region transcript 1 protein
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COG2319 - COG2319
WD40 - cd00200
WD40 - pfam00400
WD40 - smart00320


Swiss-Prot Protein: O95170
Identical to: NP_006373
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG2319COG23191e-16183702
WD40pfam004000.00012443481
WD40pfam004006.6e-11485521
WD40pfam004008.2e-07564600
WD40smart003203.5e-10484521
WD40smart003200.00034563600

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs76213106 Polymorphismp.ALA713VALN/A
dbSNPrs62070402 Polymorphismp.ASN378ASPN/A
dbSNPrs79385100 Polymorphismp.ASN644HISN/A
dbSNPrs8078150 Polymorphismp.PHE643LEUN/A
dbSNPrs62070401 Polymorphismp.THR411METN/A



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