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Results for the Protein: Q8N4T0
85683250

CBPA6_HUMAN RecName: Full=Carboxypeptidase A6; AltName: Full=Carboxypeptidase B; Flags: Precursor

Known Diseases associated with this Protein:
  EPILEPSY, FAMILIAL TEMPORAL LOBE, 5
  EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 (ETL5)
  FEBRILE SEIZURES, FAMILIAL, 11
  FEBRILE SEIZURES, FAMILIAL, 11 (FEB11)
4
3
2
3
2
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

Propep_M14 - pfam02244
COG2866 - COG2866
M14_CPB - cd03871
M14_CPA - cd03870
M14-like_8 - cd06905
M14_CP_A-B_like_1 - cd06248
M14_CPO - cd06247
M14_CPT - cd03859
M14_CPB2 - cd06246
M14-like_2 - cd06227
M14_CPA6 - cd03872
Zn_pept - smart00631
M14_CP_A-B_like - cd03860
M14_CPM - cd03866
M14_CP_N-E_like - cd03858
Peptidase_M14 - pfam00246
M14_CPT_like - cd06226
M14-like_3 - cd06228
M14_Endopeptidase_I - cd06229
M14_MpaA_like - cd06904
Peptidase_M14_like - cd00596


Swiss-Prot Protein: Q8N4T0
Identical to: NP_065094
   Default View:






















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
M14_CPBcd038719.3e-157134433
M14_CPTcd038594e-47136425
M14_CPB2cd062468.7e-149136433
M14_CPOcd062476e-120136432
M14_CP_A-B_like_1cd062483.5e-75136432
M14-like_8cd069051.4e-14136428
M14_CPA6cd038729.3e-259138436
M14-like_2cd062271.4e-12138413
M14_CP_N-E_likecd038584.3e-05139430
M14_CP_A-B_likecd038601.7e-159139432
M14_CPMcd038660.00066139430
M14_CPT_likecd062261.3e-14156424
M14-like_3cd062288.6e-13161433
M14_Endopeptidase_Icd062291.6e-08168422
Peptidase_M14_likecd005961.2e-64189425
M14_MpaA_likecd069040.00069189391
Propep_M14pfam022447.4e-2343120
COG2866COG28663.6e-0765419
Peptidase_M14pfam002461.3e-123145424
Zn_peptsmart006318.1e-130139418

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_066947Diseasep.ALA270VALFebrile seizures, familial, 11 (FEB11)
dbSNPrs17343819 Polymorphismp.ASN249SERN/A
Swiss-ProtVAR_066946Diseasep.GLY267ARGEpilepsy, familial temporal lobe, 5 (ETL5)
dbSNPrs10957393 Polymorphismp.PHE45LEUN/A
dbSNPrs17853192 Polymorphismp.SER173CYSN/A
OMIM609562.0001 Diseasep.ALA270VALFEBRILE SEIZURES, FAMILIAL, 11
OMIM609562.0002 Diseasep.GLY267ARGEPILEPSY, FAMILIAL TEMPORAL LOBE, 5



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