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Results for the Protein: Q01955
134035067

CO4A3_HUMAN RecName: Full=Collagen alpha-3(IV) chain; AltName: Full=Goodpasture antigen; Contains: RecName: Full=Tumstatin; Flags: Precursor

Known Diseases associated with this Protein:
  ALPORT SYNDROME, AUTOSOMAL DOMINANT
  ALPORT SYNDROME, AUTOSOMAL DOMINANT (APSAD)
  ALPORT SYNDROME, AUTOSOMAL RECESSIVE
  ALPORT SYNDROME, AUTOSOMAL RECESSIVE (APSAR)
  HEMATURIA, BENIGN FAMILIAL
  HEMATURIA, BENIGN FAMILIAL (BFH)
19
15
5
9
20
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Default View:

Collagen - pfam01391
C4 - smart00111
C4 - pfam01413


Swiss-Prot Protein: Q01955
Identical to: NP_000082
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Collagenpfam013911.2e-1243102
Collagenpfam013911.6e-12103162
Collagenpfam013911.1e-10171244
Collagenpfam013915.1e-13268332
Collagenpfam013915e-11354412
Collagenpfam013915.7e-11418489
Collagenpfam013913.6e-12490550
Collagenpfam013915e-12554616
Collagenpfam013915.8e-11619682
Collagenpfam013913.2e-12683741
Collagenpfam013911.6e-11748806
Collagenpfam013917.1e-10811864
Collagenpfam013914.1e-12865924
Collagenpfam013912.8e-11925987
Collagenpfam013911.3e-129881047
Collagenpfam013915.4e-1010481109
Collagenpfam013913.7e-1411101169
Collagenpfam013911.6e-1011781238
Collagenpfam013911.4e-1212421303
Collagenpfam013911.3e-1113131378
Collagenpfam013913.4e-1313791438
C4pfam014132.1e-7014451554
C4pfam014131e-7415551668
C4smart001111.4e-7014451554
C4smart001112.8e-7015551668

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_011219Diseasep.ARG1661CYSAlport syndrome, autosomal recessive (APSAR)
Swiss-ProtVAR_011213Polymorphismp.ARG1215GLNN/A
dbSNPrs34505188 Polymorphismp.ARG408HISN/A
dbSNPrs57611801 Polymorphismp.ASP1269GLUN/A
Swiss-ProtVAR_011218Polymorphismp.ASP1347GLUN/A
dbSNPrs55703767 Polymorphismp.ASP326TYRN/A
Swiss-ProtVAR_001909Polymorphismp.GLN1495ARGN/A
dbSNPrs6436669 Polymorphismp.GLU162GLYN/A
dbSNPrs80109666 Polymorphismp.GLU269LYSN/A
Swiss-ProtVAR_011211Diseasep.GLY1167ARGAlport syndrome, autosomal dominant (APSAD)
Swiss-ProtVAR_030950Diseasep.GLY1216ARGAlport syndrome, autosomal recessive (APSAR)
Swiss-ProtVAR_011206Diseasep.GLY407ARGAlport syndrome, autosomal recessive (APSAR)
dbSNPrs13424243 Polymorphismp.GLY43ARGN/A
Swiss-ProtVAR_011210Diseasep.GLY640ARGAlport syndrome, autosomal recessive (APSAR)
Swiss-ProtVAR_030946Diseasep.GLY739ARGAlport syndrome, autosomal recessive (APSAR)
Swiss-ProtVAR_030947Diseasep.GLY853ARGAlport syndrome, autosomal recessive (APSAR)
Swiss-ProtVAR_030945Diseasep.GLY532ASPAlport syndrome, autosomal recessive (APSAR)
Swiss-ProtVAR_030949Diseasep.GLY1015GLUHematuria, benign familial (BFH)
Swiss-ProtVAR_011212Diseasep.GLY1207GLUAlport syndrome, autosomal recessive (APSAR)
Swiss-ProtVAR_011217Diseasep.GLY1334GLUAlport syndrome, autosomal recessive (APSAR)
Swiss-ProtVAR_011204Diseasep.GLY297GLUAlport syndrome, autosomal recessive (APSAR)
Swiss-ProtVAR_011215Diseasep.GLY1277SERAlport syndrome, autosomal recessive (APSAR)
Swiss-ProtVAR_030948Diseasep.GLY985VALHematuria, benign familial (BFH)
dbSNPrs11677877 Polymorphismp.HIS451ARGN/A
Swiss-ProtVAR_011216Polymorphismp.ILE1330THRN/A
dbSNPrs10178458 Polymorphismp.LEU141PRON/A
Swiss-ProtVAR_001908Polymorphismp.LEU1474PRON/A
Swiss-ProtVAR_061118Polymorphismp.LYS834ARGN/A
dbSNPrs28381984 Polymorphismp.PRO574LEUN/A
OMIM120070.0002 Diseasep.ARG1481TERALPORT SYNDROME, AUTOSOMAL RECESSIVE
OMIM120070.0010 Diseasep.GLY1167ARGALPORT SYNDROME, AUTOSOMAL DOMINANT
OMIM120070.0007 Diseasep.GLY1015GLUHEMATURIA, BENIGN FAMILIAL
OMIM120070.0008 Diseasep.GLY985VALHEMATURIA, BENIGN FAMILIAL
OMIM120070.0003 Diseasep.SER1524TERALPORT SYNDROME, AUTOSOMAL RECESSIVE



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