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Results for the Protein: P10643
61252057
730
C7

CO7_HUMAN RecName: Full=Complement component C7; Flags: Precursor

Known Diseases associated with this Protein:
  C7 AND C6 DEFICIENCY, COMBINED SUBTOTAL
  C7 DEFICIENCY
  COMPLEMENT COMPONENT 7 DEFICIENCY (C7D)
9
6
4
6
5
Tips:
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Default View:

TSP1 - smart00209
Ldl_recept_a - pfam00057
LDLa - smart00192
LDLa - cd00112
MACPF - pfam01823
MACPF - smart00457
CCP - cd00033
Sushi - pfam00084
CCP - smart00032
FIMAC - smart00057


Swiss-Prot Protein: P10643
Identical to: NP_000578
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LDLacd001123.6e-0985119
CCPcd000332.1e-12571627
CCPcd000333.8e-10631689
Ldl_recept_apfam000572.7e-0783119
MACPFpfam018232e-66227448
Sushipfam000841.3e-06571626
TSP1smart002095.5e-103080
LDLasmart001922.1e-0884116
MACPFsmart004572.9e-74250450
TSP1smart002093.1e-08503551
CCPsmart000326.3e-12571626
CCPsmart000321.3e-09631688
FIMACsmart000572.3e-37696765
FIMACsmart000571e-34770840

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_012643Diseasep.ARG220GLNComplement component 7 deficiency (C7D)
dbSNPrs75345202 Polymorphismp.ARG222HISN/A
Swiss-ProtVAR_012647Diseasep.ARG687HISComplement component 7 deficiency (C7D)
Swiss-ProtVAR_012645Diseasep.ARG521SERComplement component 7 deficiency (C7D)
dbSNPrs2271708 Polymorphismp.CYS128ARGN/A
Swiss-ProtVAR_012646Diseasep.GLU682GLNComplement component 7 deficiency (C7D)
Swiss-ProtVAR_012644Diseasep.GLY379ARGComplement component 7 deficiency (C7D)
dbSNPrs3792646 Polymorphismp.LYS420GLNN/A
dbSNPrs1063499 Polymorphismp.SER389THRN/A
dbSNPrs13157656 Polymorphismp.THR587PRON/A
dbSNPrs60714178 Polymorphismp.THR598SERN/A
OMIM217070.0003 Diseasep.ARG499SERC7 DEFICIENCY||C7 AND C6 DEFICIENCY, COMBINED SUBTOTAL
OMIM217070.0009 Diseasep.CYS464TERC7 DEFICIENCY
OMIM217070.0001 Diseasep.CYS728TERC7 DEFICIENCY
OMIM217070.0006 Diseasep.GLY357ARGC7 DEFICIENCY



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