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Results for the Protein: Q14563
8134674

SEM3A_HUMAN RecName: Full=Semaphorin-3A; AltName: Full=Semaphorin III; Short=Sema III; Flags: Precursor

Known Diseases associated with this Protein:
  HYPOGONADOTROPIC HYPOGONADISM 16 WITH ANOSMIA, SUSCEPTIBILITY TO
  HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA (HH16)
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2
1
0
9
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Default View:

Sema - smart00630
PSI - smart00423
IG_like - smart00410
V-set - pfam07686


Swiss-Prot Protein: Q14563
Identical to: NP_006071
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Semasmart006302e-21557490
PSIsmart004235.4e-12517568
IG_likesmart004100.00085582664
V-setpfam076860.00021584667

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_036283Polymorphismp.ALA131THRN/A
Swiss-ProtVAR_069205Diseasep.ARG730GLNHypogonadotropic hypogonadism 16 with or without anosmia (HH16)
Swiss-ProtVAR_069206Diseasep.ARG733HISHypogonadotropic hypogonadism 16 with or without anosmia (HH16)
Swiss-ProtVAR_069200Diseasep.ARG66TRPHypogonadotropic hypogonadism 16 with or without anosmia (HH16)
Swiss-ProtVAR_069201Diseasep.ASN153SERHypogonadotropic hypogonadism 16 with or without anosmia (HH16)
Swiss-ProtVAR_069202Diseasep.ILE400VALHypogonadotropic hypogonadism 16 with or without anosmia (HH16)
Swiss-ProtVAR_064749Polymorphismp.PRO396SERN/A
Swiss-ProtVAR_069204Diseasep.THR688ALAHypogonadotropic hypogonadism 16 with or without anosmia (HH16)
Swiss-ProtVAR_069203Diseasep.VAL435ILEHypogonadotropic hypogonadism 16 with or without anosmia (HH16)
OMIM603961.0002 Diseasep.VAL435ILEHYPOGONADOTROPIC HYPOGONADISM 16 WITH ANOSMIA, SUSCEPTIBILITY TO



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