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Results for the Protein: Q14028
257051004

CNGB1_HUMAN RecName: Full=Cyclic nucleotide-gated cation channel beta-1; AltName: Full=Cyclic nucleotide-gated cation channel 4; Short=CNG channel 4; Short=CNG-4; Short=CNG4; AltName: Full=Cyclic nucleotide-gated cation channel gamma; AltName: Full=Cyclic nucleotide-gated cation channel modulatory subunit; AltName: Full=Cyclic nucleotide-gated channel beta-1; Short=CNG channel beta-1; AltName: Full=Glutamic acid-rich protein; Short=GARP

Known Diseases associated with this Protein:
  RETINITIS PIGMENTOSA 45
  RETINITIS PIGMENTOSA 45 (RP45)
2
13
1
11
3
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Default View:

Ion_trans - pfam00520
Crp - COG0664
CAP_ED - cd00038
cNMP - smart00100
cNMP_binding - pfam00027


Swiss-Prot Protein: Q14028
Identical to: NP_001288
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CrpCOG06642.9e-059561173
CAP_EDcd000387.3e-279621077
Ion_transpfam005204.7e-10693879
cNMP_bindingpfam000272.5e-169801071
cNMPsmart001007.6e-259621080

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs16942445 Polymorphismp.ALA961SERN/A
dbSNPrs112002818 Polymorphismp.ALA961VALN/A
dbSNPrs8055343 Polymorphismp.ARG86GLNN/A
dbSNPrs13336595 Polymorphismp.ARG100HISN/A
Swiss-ProtVAR_059227Polymorphismp.ASN731LYSN/A
dbSNPrs7190978 Polymorphismp.ASP951GLUN/A
Swiss-ProtVAR_060491Diseasep.GLY993VALRetinitis pigmentosa 45 (RP45)
dbSNPrs61997173 Polymorphismp.LEU147ARGN/A
Swiss-ProtVAR_059225Polymorphismp.LEU479ILEN/A
dbSNPrs10459809 Polymorphismp.LEU745ILEN/A
dbSNPrs2303785 Polymorphismp.LYS911ARGN/A
dbSNPrs12927214 Polymorphismp.VAL535ALAN/A
dbSNPrs61734116 Polymorphismp.VAL469GLYN/A
dbSNPrs79889567 Polymorphismp.VAL952METN/A
OMIM600724.0001 Diseasep.GLY993VALRETINITIS PIGMENTOSA 45



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