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Results for the Protein: P58335
306526289

ANTR2_HUMAN RecName: Full=Anthrax toxin receptor 2; AltName: Full=Capillary morphogenesis gene 2 protein; Short=CMG-2; Flags: Precursor

Known Diseases associated with this Protein:
  HYALINE FIBROMATOSIS SYNDROME
  HYALINE FIBROMATOSIS SYNDROME (HFS)
11
1
5
1
6
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

vWA_ATR - cd01474
vWA_BatA_type - cd01467
vWA_collagen_alpha_1 - cd01480
VWA - smart00327
vWA_micronemal_prote - cd01471
vWA_collagen - cd01472
VWA_integrin_inverte - cd01476
vWA_integrins_alpha_ - cd01469
vWA_subgroup - cd01465
vWFA_subfamily_ECM - cd01450
vWFA - cd00198
VWA - pfam00092
Anth_Ig - pfam05587
Ant_C - pfam05586


Swiss-Prot Protein: P58335
Identical to: NP_001139266
   Default View:














Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
vWA_collagen_alpha_1cd014808.8e-0741215
vWA_BatA_typecd014675.6e-0641211
vWFAcd001981.1e-2243197
vWFA_subfamily_ECMcd014502.4e-2843198
vWA_subgroupcd014650.0002543197
vWA_integrins_alpha_cd014699.3e-0543209
vWA_micronemal_protecd014713.1e-0643214
vWA_collagencd014725.5e-0643202
VWA_integrin_invertecd014760.0001543199
VWApfam000922.6e-1944213
VWAsmart003279.8e-2142211
Anth_Igpfam055871.3e-60214318
Ant_Cpfam055862.5e-50394486

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs12647691 Polymorphismp.ALA357PRON/A
Swiss-ProtVAR_022690Diseasep.CYS218ARGHyaline fibromatosis syndrome (HFS)
Swiss-ProtVAR_022688Diseasep.GLY105ASPHyaline fibromatosis syndrome (HFS)
Swiss-ProtVAR_022689Diseasep.ILE189THRHyaline fibromatosis syndrome (HFS)
Swiss-ProtVAR_022692Diseasep.LEU329ARGHyaline fibromatosis syndrome (HFS)
Swiss-ProtVAR_022687Diseasep.LEU45PROHyaline fibromatosis syndrome (HFS)
Swiss-ProtVAR_022694Diseasep.TYR381CYSHyaline fibromatosis syndrome (HFS)
OMIM608041.0005 Diseasep.GLU220TERHYALINE FIBROMATOSIS SYNDROME
OMIM608041.0003 Diseasep.GLY105ASPHYALINE FIBROMATOSIS SYNDROME
OMIM608041.0006 Diseasep.ILE189THRHYALINE FIBROMATOSIS SYNDROME
OMIM608041.0004 Diseasep.LEU329ARGHYALINE FIBROMATOSIS SYNDROME
OMIM608041.0002 Diseasep.TYR381CYSHYALINE FIBROMATOSIS SYNDROME



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