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Results for the Protein: P51460
317373369

INSL3_HUMAN RecName: Full=Insulin-like 3; AltName: Full=Leydig insulin-like peptide; Short=Ley-I-L; AltName: Full=Relaxin-like factor; Contains: RecName: Full=Insulin-like 3 B chain; Contains: RecName: Full=Insulin-like 3 A chain; Flags: Precursor

Known Diseases associated with this Protein:
  CRYPTORCHIDISM
  CRYPTORCHIDISM (CRYPTO)
8
5
5
1
7
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Default View:

IlGF_relaxin_like - cd04365
Insulin - pfam00049
IlGF - smart00078
IlGF_like - cd00101


Swiss-Prot Protein: P51460
Identical to: NP_005534
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
IlGF_likecd001012.4e-2033129
Insulinpfam000491.6e-0531129
IlGFsmart000785.7e-0731129

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_013231Polymorphismp.ALA24GLYN/A
Swiss-ProtVAR_013236Diseasep.ARG102CYSCryptorchidism (CRYPTO)
Swiss-ProtVAR_013237Polymorphismp.ARG102HISN/A
Swiss-ProtVAR_017122Diseasep.ASN110LYSCryptorchidism (CRYPTO)
Swiss-ProtVAR_013235Diseasep.PRO93LEUCryptorchidism (CRYPTO)
Swiss-ProtVAR_013233Polymorphismp.PRO49SERN/A
dbSNPrs6523 Polymorphismp.THR60ALAN/A
Swiss-ProtVAR_013232Polymorphismp.VAL43LEUN/A
OMIM146738.0003 Diseasep.ARG70CYSCRYPTORCHIDISM
OMIM146738.0004 Diseasep.ARG70HISCRYPTORCHIDISM
OMIM146738.0005 Diseasep.ARG49TERCRYPTORCHIDISM
OMIM146738.0001 Diseasep.ASN1LYSCRYPTORCHIDISM
OMIM146738.0002 Diseasep.PRO1LEUCRYPTORCHIDISM



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