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Index > Protein center > SMPD1(Gene name) > Human
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  • SMPD1 (Gene name),
  • Sphingomyelin phosphodiesterase (Protein name ),  ASM_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • 3D
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    SMPD1(ASM);
    Protein name:
    Sphingomyelin phosphodiesterase;
    Alternative:
    Acid sphingomyelinase(aSMase);
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Monomer.
    Function:
    Converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol. Isoform 2 and isoform 3 have lost catalytic activity.
    Subcellular Location:
    Lysosome
    Protein Attributes:
    Sequence length:
    629
    Sequence:
    50:
    MPRYGASLRQ | SCPRSGREQG | QDGTAGAPGL | LWMGLVLALA | LALALALSDS | 
    100:
    RVLWAPAEAH | PLSPQGHPAR | LHRIVPRLRD | VFGWGNLTCP | ICKGLFTAIN | 
    150:
    LGLKKEPNVA | RVGSVAIKLC | NLLKIAPPAV | CQSIVHLFED | DMVEVWRRSV | 
    200:
    LSPSEACGLL | LGSTCGHWDI | FSSWNISLPT | VPKPPPKPPS | PPAPGAPVSR | 
    250:
    ILFLTDLHWD | HDYLEGTDPD | CADPLCCRRG | SGLPPASRPG | AGYWGEYSKC | 
    300:
    DLPLRTLESL | LSGLGPAGPF | DMVYWTGDIP | AHDVWHQTRQ | DQLRALTTVT | 
    350:
    ALVRKFLGPV | PVYPAVGNHE | STPVNSFPPP | FIEGNHSSRW | LYEAMAKAWE | 
    400:
    PWLPAEALRT | LRIGGFYALS | PYPGLRLISL | NMNFCSRENF | WLLINSTDPA | 
    450:
    GQLQWLVGEL | QAAEDRGDKV | HIIGHIPPGH | CLKSWSWNYY | RIVARYENTL | 
    500:
    AAQFFGHTHV | DEFEVFYDEE | TLSRPLAVAF | LAPSATTYIG | LNPGYRVYQI | 
    550:
    DGNYSGSSHV | VLDHETYILN | LTQANIPGAI | PHWQLLYRAR | ETYGLPNTLP | 
    600:
    TAWHNLVYRM | RGDMQLFQTF | WFLYHKGHPP | SEPCGTPCRL | ATLCAQLSAR | 
    629:
    ADSPALCRHL | MPDGSLPEAQ | SLWPRPLFC
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    KEGG:
    String:
    UniGene:
    MIM:
    Pfam:
    SMR:
    Uniprot:
     
    FOR
    ELISA Kit for Human Sphingomyelin phosphodiesterase
    Cat.:
    E1360h
    Price:
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    MSDS:
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    Packing:
    96T
    Range:
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    ELISA Kit for Human Sphingomyelin phosphodiesterase
    Cat.:
    E1360m
    Price:
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    MSDS:
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    Packing:
    96T
    Range:
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    ELISA Kit for Human Sphingomyelin phosphodiesterase
    Cat.:
    E1360b
    Price:
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    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Sphingomyelin phosphodiesterase
    Cat.:
    U1360m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Sphingomyelin phosphodiesterase
    Cat.:
    U1360h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    CLIA Kit for Human Sphingomyelin phosphodiesterase
    Cat.:
    U1360b
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Polyclonal Antibody for Human Sphingomyelin phosphodiesterase
    Cat.:
    P1360Rb-h
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Sphingomyelin phosphodiesterase
    Cat.:
    P1360Rb-m
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Sphingomyelin phosphodiesterase
    Monoclonal Antibody for Human Sphingomyelin phosphodiesterase
    Monoclonal Antibody for Human Sphingomyelin phosphodiesterase
    Monoclonal Antibody for Human Sphingomyelin phosphodiesterase
    Protein for Human Sphingomyelin phosphodiesterase
    Protein for Human Sphingomyelin phosphodiesterase
    Protein for Human Sphingomyelin phosphodiesterase

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    Precision
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    Recovery
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    Linearity
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    References
    1. 1.
      "A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate."
      Sperl W. , Bart G. , Vanier M.T. , Christomanou H. , Baldissera I. , Steichensdorf E. , Paschke E.
      J. Inherit. Metab. Dis.17:93-103(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NPDB GLY-391
    2. 2.
      "Two new mutations in the acid sphingomyelinase gene causing type A Niemann-pick disease: N389T and R441X."
      Schuchman E.H.
      Hum. Mutat.6:352-354(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NPDA THR-389
    3. 3.
      "Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease."
      Takahashi T. , Suchi M. , Sato W. , Ten S.B. , Sakuragawa N. , Desnick R.J. , Schuchman E.H. , Takada G.
      Tohoku J. Exp. Med.177:117-123(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NPDA CYS-446
    4. 4.
      "Identification of three novel mutations in the acid sphingomyelinase gene of Japanese patients with Niemann-Pick disease type A and B."
      Ida H. , Rennert O.M. , Maekawa K. , Eto Y.
      Hum. Mutat.7:65-67(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NPDB GLN-246
    5. 5.
      "Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency."
      Pavluu H. , Elleder M.
      J. Inherit. Metab. Dis.20:615-616(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPDA/NPDB LYS-292 AND PRO-341
    6. 6.
      "The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations."
      Simonaro C.M. , Desnick R.J. , McGovern M.M. , Wasserstein M.P. , Schuchman E.H.
      Am. J. Hum. Genet.71:1413-1419(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPDB VAL-49; TRP-92; PRO-137; ARG-157; PRO-196; CYS-200; MET-225; CYS-228; ASP-232; SER-245; ARG-248; HIS-289; ALA-323; ARG-330; ASP-357; HIS-376; LEU-376; PRO-379; VAL-413; TYR-421; ARG-431; PRO-432; CYS-435; VAL-452; ASP-456; TRP-474; LEU-475; LEU-480; VAL-485; ASN-488; SER-494; CYS-496; GLN-514; VAL-515; ARG-533; PRO-549; ASN-576; HIS-600 AND PRO-600
    7. 7.
      "Seven novel Acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients."
      Sikora J. , Pavluu-Pereira H. , Elleder M. , Roelofs H. , Wevers R.A.
      Ann. Hum. Genet.67:63-70(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPDA ARG-248; TYR-319; SER-463; LEU-475 AND HIS-537;VARIANTS NPDB SER-371 AND ARG-608 DEL
    8. 8.
      "Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1."
      Ricci V. , Stroppiano M. , Corsolini F. , Di Rocco M. , Parenti G. , Regis S. , Grossi S. , Biancheri R. , Mazzotti R. , Filocamo M.
      Hum. Mutat.24:105-105(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPDA PRO-103; SER-245; LYS-246; GLN-294; HIS-313; PRO-450; LEU-475; LEU-496; HIS-496 AND CYS-517
    9. 9.
      "Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon."
      Pittis M.G. , Ricci V. , Guerci V.I. , Marcais C. , Ciana G. , Dardis A. , Gerin F. , Stroppiano M. , Vanier M.T. , Filocamo M. , Bembi B.
      Hum. Mutat.24:186-187(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPDB PRO-103; PRO-225; CYS-244; THR-281; LYS-292 AND ILE-382
    10. 10.
      "Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick type B disease."
      Dardis A. , Zampieri S. , Filocamo M. , Burlina A. , Bembi B. , Pittis M.G.
      Hum. Mutat.26:164-164(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPDB ALA-130 AND TYR-563;CHARACTERIZATION OF VARIANTS NPDB PRO-103; ALA-130; PRO-225; CYS-244; THR-281; TYR-563; HIS-600 AND PRO-600
    11. 11.
      "Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study."
      Pavluu-Pereira H. , Asfaw B. , Poupctova H. , Ledvinova J. , Sikora J. , Vanier M.T. , Sandhoff K. , Zeman J. , Novotna Z. , Chudoba D. , Elleder M.
      J. Inherit. Metab. Dis.28:203-227(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPDA/NPDB ARG-166; LEU-184; HIS-228; VAL-241; ARG-248; GLU-251; ALA-278; HIS-289; LYS-292; PRO-341; HIS-376; TRP-474; ARG-533 AND SER-577;VARIANT ARG-506
    12. 12.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPDB ARG-166 AND ASN-176;VARIANT GLY-505
    13. 13.
      "A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease."
      Lan M.Y. , Lin S.J. , Chen Y.F. , Peng C.H. , Liu Y.F.
      Ann. Hematol.88:695-697(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPDB ARG-330 AND ASP-451
    14. 14.
      "Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients."
      Rodriguez-Pascau L. , Gort L. , Schuchman E.H. , Vilageliu L. , Grinberg D. , Chabas A.
      Hum. Mutat.30:1117-1122(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPDA SER-245; CYS-367; PHE-390 DEL; ARG-421; SER-467; GLU-482 AND THR-592 DEL;VARIANTS NPDB CYS-228; HIS-376; TRP-474; ALA-486 AND ARG-608 DEL
    15. 15.
      "Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease."
      Desnick J.P. , Kim J. , He X. , Wasserstein M.P. , Simonaro C.M. , Schuchman E.H.
      Mol. Med.16:316-321(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS NPDA ARG-209 AND HIS-251;VARIANTS NPDB MET-312; ARG-425 AND HIS-523;CHARACTERIZATION OF VARIANTS NPDA ARG-209 AND HIS-251;CHARACTERIZATION OF VARIANTS NPDB MET-312; ARG-425 AND HIS-523
    16. 16.
      "A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease."
      Hua R. , Wu H. , Cui Z. , Chen J.X. , Wang Z.
      Chin. Med. J.125:1511-1512(2012) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NPDB SER-520
    17. 17.
      "Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs."
      Schuchman E.H. , Suchi M. , Takahashi T. , Sandhoff K. , Desnick R.J.
      J. Biol. Chem.266:8531-8539(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];ALTERNATIVE SPLICING;VARIANTS ILE-322 AND ARG-506
    18. 18.
      "Molecular cloning of the acid sphingomyelinase of the mouse and the organization and complete nucleotide sequence of the gene."
      Newrzella D. , Stoffel W.
      Biol. Chem. Hoppe-Seyler373:1233-1238(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANT ARG-506
    19. 19.
      "Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1)."
      Schuchman E.H. , Levran O. , Pereira L.V. , Desnick R.J.
      Genomics12:197-205(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANT ALA-36
    20. 20.
      "Cloning of a human acid sphingomyelinase cDNA with a new mutation that renders the enzyme inactive."
      Ida H. , Rennert O.M. , Eto Y. , Chan W.Y.
      J. Biochem.114:15-20(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];VARIANT ARG-157
    21. 21.
      "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
      Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4);VARIANT ARG-506
      tissue: Testis.
    22. 22.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    23. 23.
      "Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts."
      Quintern L.E. , Schuchman E.H. , Levran O. , Suchi M. , Ferlinz K. , Reinke H. , Sandhoff K. , Desnick R.J.
      EMBO J.8:2469-2473(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 128-629;PARTIAL PROTEIN SEQUENCE;ALTERNATIVE SPLICING;VARIANTS ILE-322 AND ARG-506
      tissue: Fibroblast.
    24. 24.
      "Functional characterization of the N-glycosylation sites of human acid sphingomyelinase by site-directed mutagenesis."
      Ferlinz K. , Hurwitz R. , Moczall H. , Lansmann S. , Schuchman E.H. , Sandhoff K.
      Eur. J. Biochem.243:511-517(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION AT ASN-86; ASN-175; ASN-335; ASN-395 AND ASN-520
    25. 25.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: DISULFIDE BONDS
    26. 26.
      "Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol."
      Dastani Z. , Ruel I.L. , Engert J.C. , Genest J. Jr. , Marcil M.
      BMC Med. Genet.8:79-79(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: POLYMORPHISM
    27. 27.
      "Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A."
      Ferlinz K. , Hurwitz R. , Sandhoff K.
      Biochem. Biophys. Res. Commun.179:1187-1191(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NPDA SER-577
    28. 28.
      "Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients."
      Levran O. , Desnick R.J. , Schuchman E.H.
      Proc. Natl. Acad. Sci. U.S.A.88:3748-3752(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NPDA LEU-496
    29. 29.
      "Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients."
      Levran O. , Desnick R.J. , Schuchman E.H.
      J. Clin. Invest.88:806-810(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NPDB ARG-608 DEL
    30. 30.
      "Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients."
      Levran O. , Desnick R.J. , Schuchman E.H.
      Blood80:2081-2087(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NPDA PRO-302
    31. 31.
      "Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease."
      Takahashi T. , Desnick R.J. , Takada G. , Schuchman E.H.
      Hum. Mutat.1:70-71(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NPDB ARG-436
    32. 32.
      "Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms."
      Takahashi T. , Suchi M. , Desnick R.J. , Takada G. , Schuchman E.H.
      J. Biol. Chem.267:12552-12558(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT NPDA ILE-382;VARIANTS NPDB ARG-242 AND SER-383
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