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Results for the Protein: Q9H6B4
74761472

CLMP_HUMAN RecName: Full=CXADR-like membrane protein; AltName: Full=Adipocyte adhesion molecule; AltName: Full=Coxsackie- and adenovirus receptor-like membrane protein; Short=CAR-like membrane protein; Flags: Precursor

Known Diseases associated with this Protein:
  CONGENITAL SHORT BOWEL SYNDROME
  CONGENITAL SHORT BOWEL SYNDROME (CSBS)
3
1
2
1
1
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Default View:

Ig_P0-like - cd05715
Ig_EVA1 - cd05880
IG_like - smart00410
IG - smart00409
V-set - pfam07686
Ig1_PVR_like - cd05718
Ig1_Nectin-4_like - cd05888
Ig_MOG_like - cd05713
IGv - smart00406
Ig - cd00096
I-set - pfam07679
IGc2 - smart00408


Swiss-Prot Protein: Q9H6B4
Identical to: NP_079045
   Default View:












Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ig_P0-likecd057150.0002219128
Ig_EVA1cd058800.0007119128
Ig_MOG_likecd057131.6e-0529129
Ig1_PVR_likecd057188e-0629129
Ig1_Nectin-4_likecd058880.0007729129
Igcd000961.2e-1231126
Igcd000961.9e-06149222
IGsmart004094.4e-0920129
IG_likesmart004104.4e-0920129
V-setpfam076865.7e-1122130
IGvsmart004066.3e-0630113
I-setpfam076790.00067127225
IGsmart004091.4e-11138226
IG_likesmart004101.4e-11138226
V-setpfam076860.00038140225
IGc2smart004086.6e-05145215

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2276348 Polymorphismp.ARG69HISN/A
Swiss-ProtVAR_069713Diseasep.VAL124ASPCongenital short bowel syndrome (CSBS)
OMIM611693.0003 Diseasep.ARG222TERCONGENITAL SHORT BOWEL SYNDROME
OMIM611693.0004 Diseasep.VAL124ASPCONGENITAL SHORT BOWEL SYNDROME



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