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Results for the Protein: P10745
124894

RET3_HUMAN RecName: Full=Retinol-binding protein 3; AltName: Full=Interphotoreceptor retinoid-binding protein; Short=IRBP; AltName: Full=Interstitial retinol-binding protein; Flags: Precursor

Known Diseases associated with this Protein:
  RETINITIS PIGMENTOSA 66 (1 FAMILY)
  RETINITIS PIGMENTOSA 66 (RP66)
2
40
1
1
40
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Default View:

Peptidase_S41_IRBP - cd07563
Peptidase_S41 - cd06567
DUF3436 - pfam11918
TSPc - smart00245
Peptidase_S41 - pfam03572
Peptidase_S41_TRI - cd07562
Prc - COG0793


Swiss-Prot Protein: P10745
Identical to: NP_002891
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Peptidase_S41_IRBPcd075634.1e-9527316
Peptidase_S41cd065671.3e-2528308
Peptidase_S41_TRIcd075625.3e-08308631
Peptidase_S41_IRBPcd075635.5e-92329626
Peptidase_S41cd065671.1e-20337619
PrcCOG07931.2e-05553962
Peptidase_S41_IRBPcd075631.8e-108639927
Peptidase_S41cd065676.7e-29640919
Peptidase_S41_IRBPcd075631.6e-1109401226
Peptidase_S41cd065675.2e-359541218
Peptidase_S41pfam035727.6e-42129307
Peptidase_S41pfam035726.4e-42438617
Peptidase_S41pfam035721.4e-41742918
Peptidase_S41pfam035721.1e-4710411217
DUF3436pfam119184.6e-3171125
TSPcsmart002451.1e-60109308
TSPcsmart002455.3e-64414618
TSPcsmart002451.8e-69722919
TSPcsmart002452.6e-6310211218

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069677Polymorphismp.ALA325THRN/A
Swiss-ProtVAR_069679Polymorphismp.ALA379THRN/A
Swiss-ProtVAR_069690Polymorphismp.ALA615VALN/A
Swiss-ProtVAR_069692Polymorphismp.ALA688VALN/A
Swiss-ProtVAR_069685Polymorphismp.ARG535CYSN/A
Swiss-ProtVAR_069696Polymorphismp.ARG747CYSN/A
Swiss-ProtVAR_069698Polymorphismp.ARG833CYSN/A
Swiss-ProtVAR_069674Polymorphismp.ARG267GLNN/A
Swiss-ProtVAR_069670Polymorphismp.ARG122HISN/A
Swiss-ProtVAR_069678Polymorphismp.ARG346HISN/A
Swiss-ProtVAR_035929Polymorphismp.ARG530HISN/A
Swiss-ProtVAR_069686Polymorphismp.ARG544HISN/A
Swiss-ProtVAR_069681Polymorphismp.ARG443SERN/A
Swiss-ProtVAR_069697Polymorphismp.ASN785LYSN/A
Swiss-ProtVAR_069706Diseasep.ASP1080ASNRetinitis pigmentosa 66 (RP66)
Swiss-ProtVAR_069689Polymorphismp.ASP614ASNN/A
Swiss-ProtVAR_069683Polymorphismp.GLN518ARGN/A
Swiss-ProtVAR_069702Polymorphismp.GLU956LYSN/A
Swiss-ProtVAR_069695Polymorphismp.GLY741SERN/A
Swiss-ProtVAR_069699Polymorphismp.GLY835SERN/A
Swiss-ProtVAR_069669Polymorphismp.GLY18VALN/A
Swiss-ProtVAR_069684Polymorphismp.HIS523GLNN/A
Swiss-ProtVAR_069682Polymorphismp.HIS505LEUN/A
Swiss-ProtVAR_069688Polymorphismp.ILE599VALN/A
Swiss-ProtVAR_069694Polymorphismp.PRO723LEUN/A
Swiss-ProtVAR_069701Polymorphismp.SER921ARGN/A
Swiss-ProtVAR_069680Polymorphismp.SER433LEUN/A
Swiss-ProtVAR_069672Polymorphismp.SER163PRON/A
Swiss-ProtVAR_069704Polymorphismp.SER1021TYRN/A
Swiss-ProtVAR_069700Polymorphismp.THR903ARGN/A
Swiss-ProtVAR_069676Polymorphismp.THR321ILEN/A
Swiss-ProtVAR_069691Polymorphismp.THR675ILEN/A
Swiss-ProtVAR_069703Polymorphismp.THR963ILEN/A
Swiss-ProtVAR_069707Polymorphismp.THR1194METN/A
Swiss-ProtVAR_069687Polymorphismp.VAL593ALAN/A
Swiss-ProtVAR_069705Polymorphismp.VAL1059ILEN/A
Swiss-ProtVAR_069671Polymorphismp.VAL155METN/A
Swiss-ProtVAR_069673Polymorphismp.VAL196METN/A
Swiss-ProtVAR_069675Polymorphismp.VAL282METN/A
Swiss-ProtVAR_069693Polymorphismp.VAL693METN/A
dbSNPrs11204213 Polymorphismp.VAL884METN/A
OMIM180290.0001 Diseasep.ASP1080ASNRETINITIS PIGMENTOSA 66 (1 family)



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