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Results for the Protein: NP_849188
117414137

retinitis pigmentosa 1-like 1 protein [Homo sapiens]

Known Diseases associated with this Protein:
  OCCULT MACULAR DYSTROPHY
  OCCULT MACULAR DYSTROPHY, SUSCEPTIBILITY TO
2
24
2
24
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DCX - smart00537
S-antigen - pfam05756


RefSeq Protein: NP_849188
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DCXsmart005372.1e-09147231
S-antigenpfam057561.1e-0617252252

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs11785822 Polymorphismp.ALA1946GLUN/A
dbSNPrs77968698 Polymorphismp.ALA1840GLYN/A
dbSNPrs62490855 Polymorphismp.ALA1483VALN/A
dbSNPrs13267180 Polymorphismp.ALA1709VALN/A
dbSNPrs74400517 Polymorphismp.ALA487VALN/A
dbSNPrs4840498 Polymorphismp.ARG1467SERN/A
dbSNPrs4840502 Polymorphismp.ARG1146TRPN/A
dbSNPrs62490856 Polymorphismp.ARG860TRPN/A
dbSNPrs28446662 Polymorphismp.ASP1889VALN/A
dbSNPrs11778341 Polymorphismp.GLN2088HISN/A
dbSNPrs115884793 Polymorphismp.GLU1540ASPN/A
dbSNPrs9657518 Polymorphismp.GLU1340GLYN/A
dbSNPrs72494282 Polymorphismp.GLU2140LYSN/A
dbSNPrs4354268 Polymorphismp.GLU2171LYSN/A
dbSNPrs11782670 Polymorphismp.GLU2070VALN/A
dbSNPrs55642448 Polymorphismp.GLY2285ARGN/A
dbSNPrs115126172 Polymorphismp.GLY183SERN/A
dbSNPrs74990397 Polymorphismp.GLY514SERN/A
dbSNPrs4388421 Polymorphismp.HIS222PRON/A
dbSNPrs35602868 Polymorphismp.LEU792PRON/A
dbSNPrs4841399 Polymorphismp.PRO1495ARGN/A
dbSNPrs75797924 Polymorphismp.PRO2199LEUN/A
dbSNPrs11783478 Polymorphismp.THR1954ALAN/A
dbSNPrs6601495 Polymorphismp.THR112SERN/A
OMIM608581.0001 Diseasep.ARG45TRPOCCULT MACULAR DYSTROPHY, SUSCEPTIBILITY TO
OMIM608581.0002 Diseasep.TRP960ARGOCCULT MACULAR DYSTROPHY



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