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Results for the Protein: Q96MI9
158706472

CBPC4_HUMAN RecName: Full=Cytosolic carboxypeptidase 4; AltName: Full=ATP/GTP-binding protein-like 1

Known Diseases associated with this Protein:
  CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8
  CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8 (FECD8)
3
4
2
4
1
Tips:
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Default View:

M14_Nna1_like_1 - cd06234
Zn_pept - smart00631
M14_AGBL5_like - cd06236
M14_Nna1 - cd06906
M14_AGBL4_like - cd06908
M14_Nna1_like - cd03856
M14_Nna1_like_2 - cd06235
M14_AGBL2-3_like - cd06907
Peptidase_M14 - pfam00246
M14_Nna1_like_3 - cd06237
Peptidase_M14_like - cd00596


Swiss-Prot Protein: Q96MI9
Identical to: NP_689549
   Default View:













Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
M14_AGBL5_likecd062369e-24695973
M14_Nna1_likecd038563.4e-131697993
M14_Nna1_like_2cd062352e-125697995
M14_Nna1cd069063.7e-174697995
M14_AGBL4_likecd069081.7e-34697961
M14_AGBL2-3_likecd069076.4e-86699997
M14_Nna1_like_3cd062373.8e-05708926
Peptidase_M14_likecd005961.7e-28751969
Peptidase_M14pfam002469.8e-11699967
Zn_peptsmart006311.7e-08687962

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_070225Diseasep.CYS990SERCorneal dystrophy, Fuchs endothelial, 8 (FECD8)
dbSNPrs8028043 Polymorphismp.GLN1010ARGN/A
dbSNPrs73459659 Polymorphismp.GLY971SERN/A
dbSNPrs8029810 Polymorphismp.PRO417LEUN/A
dbSNPrs11857527 Polymorphismp.SER435PRON/A
OMIM615496.0001 Diseasep.ARG1028TERCORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8
OMIM615496.0002 Diseasep.CYS990SERCORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8



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