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Results for the Protein: P53680
51338780

AP2S1_HUMAN RecName: Full=AP-2 complex subunit sigma; AltName: Full=Adapter-related protein complex 2 subunit sigma; AltName: Full=Adaptor protein complex AP-2 subunit sigma; AltName: Full=Clathrin assembly protein 2 sigma small chain; AltName: Full=Clathrin coat assembly protein AP17; AltName: Full=Clathrin coat-associated protein AP17; AltName: Full=HA2 17 kDa subunit; AltName: Full=Plasma membrane adaptor AP-2 17 kDa protein; AltName: Full=Sigma2-adaptin

Known Diseases associated with this Protein:
  HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL 3 (HHC3)
  HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III
6
0
3
0
3
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Default View:

Clat_adaptor_s - pfam01217
APS2 - COG5030


Swiss-Prot Protein: P53680
Identical to: NP_004060
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
APS2COG50308.6e-641142
Clat_adaptor_spfam012172.5e-961142

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069570Diseasep.ARG15CYSHypocalciuric hypercalcemia, familial 3 (HHC3)
Swiss-ProtVAR_069571Diseasep.ARG15HISHypocalciuric hypercalcemia, familial 3 (HHC3)
Swiss-ProtVAR_069572Diseasep.ARG15LEUHypocalciuric hypercalcemia, familial 3 (HHC3)
OMIM602242.0001 Diseasep.ARG15CYSHYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III
OMIM602242.0003 Diseasep.ARG15HISHYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III
OMIM602242.0002 Diseasep.ARG15LEUHYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III



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