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Results for the Protein: P01031
166900096
727
C5

CO5_HUMAN RecName: Full=Complement C5; AltName: Full=C3 and PZP-like alpha-2-macroglobulin domain-containing protein 4; Contains: RecName: Full=Complement C5 beta chain; Contains: RecName: Full=Complement C5 alpha chain; Contains: RecName: Full=C5a anaphylatoxin; Contains: RecName: Full=Complement C5 alpha' chain; Flags: Precursor

Known Diseases associated with this Protein:
  COMPLEMENT COMPONENT 5 DEFICIENCY
2
17
2
6
11
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

MG1 - pfam11974
A2M_N - pfam01835
A2M_N_2 - pfam07703
ANATO - cd00017
ANATO - pfam01821
ANATO - smart00104
A2M - pfam00207
A2M_2 - cd02897
ISOPREN_C2_like - cd00688
complement_C3_C4_C5 - cd02896
A2M_like - cd02891
A2M_comp - pfam07678
A2M_recep - pfam07677
NTR_complement_C4 - cd03584
NTR_complement_C3 - cd03583
NTR_complement_C5 - cd03582
NTR_complement_C345C - cd03574
C345C - smart00643
NTR_like - cd03523
NTR - pfam01759


Swiss-Prot Protein: P01031
Identical to: NP_001726
   Default View:









Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ANATOcd000172.5e-27682750
ISOPREN_C2_likecd006882.2e-519931300
A2M_likecd028916.2e-889931300
complement_C3_C4_C5cd028962e-1389931300
A2M_2cd028972e-209931300
NTR_complement_C4cd035848.6e-1115251676
NTR_complement_C5cd035822.3e-11115271676
NTR_complement_C3cd035831.4e-1215271676
NTR_complement_C345Ccd035741.3e-6115321676
NTR_likecd035231.1e-4815501669
A2M_Npfam018351.1e-25125219
ANATOpfam018211.1e-12698732
A2Mpfam002071.4e-40772859
NTRpfam017593.1e-3315501661
MG1pfam119742.6e-117111
A2M_N_2pfam077034.6e-36465612
ANATOsmart001043.9e-12698732
A2M_comppfam076787.8e-9510511302
A2M_receppfam076771.5e-3714191509
C345Csmart006436.2e-3915491661

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_038737Polymorphismp.ARG928GLNN/A
Swiss-ProtVAR_038736Polymorphismp.ARG449GLYN/A
dbSNPrs2230213 Polymorphismp.ARG449TRPN/A
Swiss-ProtVAR_038740Polymorphismp.ASP1037ASNN/A
dbSNPrs2230212 Polymorphismp.ASP966TYRN/A
dbSNPrs41311887 Polymorphismp.GLN1043LYSN/A
dbSNPrs17612 Polymorphismp.GLU1437ASPN/A
Swiss-ProtVAR_038738Polymorphismp.GLY933VALN/A
Swiss-ProtVAR_038739Polymorphismp.ILE1033THRN/A
Swiss-ProtVAR_048822Polymorphismp.LEU354METN/A
Swiss-ProtVAR_014575Polymorphismp.MET1053LEUN/A
Swiss-ProtVAR_001996Polymorphismp.PHE518SERN/A
Swiss-ProtVAR_014576Polymorphismp.SER1310ASNN/A
Swiss-ProtVAR_023946Polymorphismp.THR389ILEN/A
Swiss-ProtVAR_048824Polymorphismp.VAL1365ALAN/A
dbSNPrs17216529 Polymorphismp.VAL145ILEN/A
dbSNPrs17611 Polymorphismp.VAL802ILEN/A
OMIM120900.0002 Diseasep.ARG1458TERCOMPLEMENT COMPONENT 5 DEFICIENCY
OMIM120900.0001 Diseasep.GLN84TERCOMPLEMENT COMPONENT 5 DEFICIENCY



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