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Results for the Protein: NP_055935
110349786

Alstrom syndrome protein 1 [Homo sapiens]

Known Diseases associated with this Protein:
  ALSTROM SYNDROME
4
24
4
24
0
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RefSeq Protein: NP_055935
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs3813227 Polymorphismp.ARG392CYSN/A
dbSNPrs17009061 Polymorphismp.ARG1928GLNN/A
dbSNPrs61743400 Polymorphismp.ARG4057HISN/A
dbSNPrs1052161 Polymorphismp.ARG4029LYSN/A
dbSNPrs6546839 Polymorphismp.ARG2284PRON/A
dbSNPrs2056486 Polymorphismp.ARG2826SERN/A
dbSNPrs10193972 Polymorphismp.ASN2856SERN/A
dbSNPrs2017116 Polymorphismp.ASP2672HISN/A
dbSNPrs17848880 Polymorphismp.GLU784GLYN/A
dbSNPrs6546837 Polymorphismp.GLY1414ALAN/A
dbSNPrs34927702 Polymorphismp.GLY3755SERN/A
dbSNPrs61741524 Polymorphismp.GLY3940SERN/A
dbSNPrs10496192 Polymorphismp.ILE2070THRN/A
dbSNPrs6546838 Polymorphismp.ILE1875VALN/A
dbSNPrs78039319 Polymorphismp.LYS1810ASNN/A
dbSNPrs34071195 Polymorphismp.LYS3434GLUN/A
dbSNPrs11889925 Polymorphismp.PRO224HISN/A
dbSNPrs35872753 Polymorphismp.PRO2690HISN/A
dbSNPrs77555300 Polymorphismp.PRO2184SERN/A
dbSNPrs6724782 Polymorphismp.SER2111ARGN/A
dbSNPrs3820700 Polymorphismp.SER2574ASNN/A
dbSNPrs11896293 Polymorphismp.SER3684ASNN/A
dbSNPrs28730849 Polymorphismp.THR382ALAN/A
dbSNPrs2037814 Polymorphismp.VAL671GLYN/A
OMIM606844.0007 Diseasep.ARG2722TERALSTROM SYNDROME
OMIM606844.0002 Diseasep.GLU2795TERALSTROM SYNDROME
OMIM606844.0009 Diseasep.GLU3649TERALSTROM SYNDROME
OMIM606844.0006 Diseasep.TRP3664TERALSTROM SYNDROME



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