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Results for the Protein: P20908
85687376

CO5A1_HUMAN RecName: Full=Collagen alpha-1(V) chain; Flags: Precursor

Known Diseases associated with this Protein:
  EHLERS-DANLOS SYNDROME 1 (EDS1)
  EHLERS-DANLOS SYNDROME 2 (EDS2)
  EHLERS-DANLOS SYNDROME, TYPE I
10
7
4
1
12
Tips:
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Default View:

TSPN - smart00210
LamG - cd00110
LamG - smart00282
Laminin_G_2 - pfam02210
Collagen - pfam01391
COLFI - smart00038
COLFI - pfam01410


Swiss-Prot Protein: P20908
Identical to: NP_000084
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LamGcd001100.0001374227
Laminin_G_2pfam022102.2e-15106229
Collagenpfam013914.6e-11469538
Collagenpfam013912.1e-10557612
Collagenpfam013913.2e-15613672
Collagenpfam013916.6e-15673732
Collagenpfam013911e-11733792
Collagenpfam013914.4e-11793852
Collagenpfam013917.6e-12853912
Collagenpfam013911.2e-14913972
Collagenpfam013912.1e-139731032
Collagenpfam013911.1e-1210331092
Collagenpfam013911.1e-1110931149
Collagenpfam013917e-1111501203
Collagenpfam013918.1e-1312041263
Collagenpfam013915.5e-1212641323
Collagenpfam013916e-1313241383
Collagenpfam013911.9e-1213871446
Collagenpfam013914.1e-1314471506
Collagenpfam013917.8e-1315131572
COLFIpfam014103.6e-14016251836
TSPNsmart002101.8e-8639230
LamGsmart002822.1e-0598229
COLFIsmart000382.8e-15416081837

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_057904Polymorphismp.ALA114ASPN/A
Swiss-ProtVAR_057908Polymorphismp.ASN951SERN/A
Swiss-ProtVAR_057905Polymorphismp.ASP192ASNN/A
Swiss-ProtVAR_057906Polymorphismp.ASP229ASNN/A
Swiss-ProtVAR_001808Diseasep.CYS1639SEREhlers-Danlos syndrome 1 (EDS1)
Swiss-ProtVAR_015413Diseasep.GLY1489ASPEhlers-Danlos syndrome 1 (EDS1)
Swiss-ProtVAR_057909Diseasep.GLY1486CYSEhlers-Danlos syndrome 2 (EDS2)
Swiss-ProtVAR_015412Diseasep.GLY530SEREhlers-Danlos syndrome 2 (EDS2)
Swiss-ProtVAR_057903Diseasep.LEU25ARGEhlers-Danlos syndrome 2 (EDS2)
Swiss-ProtVAR_057902Diseasep.LEU25PROEhlers-Danlos syndrome 2 (EDS2)
Swiss-ProtVAR_064702Polymorphismp.PRO908LEUN/A
Swiss-ProtVAR_057907Polymorphismp.PRO393SERN/A
dbSNPrs2229817 Polymorphismp.THR1757METN/A
OMIM120215.0012 Diseasep.ARG1062TEREHLERS-DANLOS SYNDROME, TYPE I
OMIM120215.0009 Diseasep.ARG792TEREHLERS-DANLOS SYNDROME, TYPE I
OMIM120215.0003 Diseasep.CYS1181SEREHLERS-DANLOS SYNDROME, TYPE I
OMIM120215.0007 Diseasep.GLY1489GLUEHLERS-DANLOS SYNDROME, TYPE I



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