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Results for the Protein: P05997
143811378

CO5A2_HUMAN RecName: Full=Collagen alpha-2(V) chain; Flags: Precursor

Known Diseases associated with this Protein:
  EHLERS-DANLOS SYNDROME 2 (EDS2)
  EHLERS-DANLOS SYNDROME, TYPE II
2
7
1
2
6
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 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

VWC - smart00214
VWC - pfam00093
Collagen - pfam01391
COLFI - smart00038
COLFI - pfam01410


Swiss-Prot Protein: P05997
Identical to: NP_000384
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
VWCpfam000932.9e-254196
Collagenpfam013912.3e-12126185
Collagenpfam013914e-11211266
Collagenpfam013911.7e-12267323
Collagenpfam013914.8e-12324383
Collagenpfam013912.3e-13390449
Collagenpfam013912.7e-13450509
Collagenpfam013912.5e-14510569
Collagenpfam013918.1e-13570629
Collagenpfam013911.3e-12630689
Collagenpfam013911.4e-11690749
Collagenpfam013911.1e-12750809
Collagenpfam013911.2e-15813872
Collagenpfam013912.3e-12873932
Collagenpfam013914.6e-12933992
Collagenpfam013915.7e-139931052
Collagenpfam013915.7e-1210531112
Collagenpfam013911.3e-1511131172
Collagenpfam013914.5e-1111731232
COLFIpfam014104.9e-15012821498
VWCsmart002145.8e-224196
COLFIsmart000382.2e-17312651499

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_048800Polymorphismp.ARG956PRON/A
Swiss-ProtVAR_057913Polymorphismp.ASP1432VALN/A
Swiss-ProtVAR_013588Diseasep.GLY963ARGEhlers-Danlos syndrome 2 (EDS2)
dbSNPrs115570272 Polymorphismp.PRO467LEUN/A
Swiss-ProtVAR_057911Polymorphismp.PRO833LEUN/A
dbSNPrs35830636 Polymorphismp.PRO460SERN/A
Swiss-ProtVAR_057912Polymorphismp.THR1230SERN/A
Swiss-ProtVAR_057910Polymorphismp.VAL512ALAN/A
OMIM120190.0003 Diseasep.GLY934ARGEHLERS-DANLOS SYNDROME, TYPE II



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