PAH M1I - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

PAH M1I

(PAH Met1Ile)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.027 (benign)
    Web search results (1740 hits -- see all)
  • PAHdb
    mutations causing missense in translation of which few have a primary effect on PAH enzyme kinetics. ... M1I and IVS3nt-6 have each been. reported once as de novo alleles, ...
    pahdb.mcgill.ca/.../Main/PAHdb2003HumMutat21333-344-2003.pdf
  • FINDbase
    PAH. Phenylketonuria. c.529G>C. PAH. Phenylketonuria. c.58C>T. PAH ... p.M1I. PAH. Phenylketonuria. p.M1V. PAH. Phenylketonuria. p.M276K. PAH. Phenylketonuria. p.M276R ...
    findbase.org/display-file.php?...&consortium=
  • Three-micron spectra of AGB stars and supergiants in nearby ...
    This first detection of a PAH band from an SMC post-AGB star confirms PAHs ... PAH emission is usually seen once the stars reach a. temperature of ...
    jupiter.phy.umist.ac.uk/~mikako/Preprints/aa2305.pdf
  • Astronomy
    This first detection of a PAH band from an SMC post-AGB star confirms PAHs ... PAH detection in SMC-S2 shows that PAHs can form in. the metal-poor ...
    www.jb.man.ac.uk/~pwoods/pubs/Matsuura_etal2005.pdf
  • Kevin_F on Xanga
    Message: message me Email: email me. Website: visit my website. Yahoo: ... æ¥N¡C°²¦pÀH¤f"¡"¡¡A¤£¶È·|Åý¹ï¤è"ü¶Ë¡A§A¤]¥²¶·­n©Ó¾á³o­Ó³d¥ô¡C§A¹ç¥i©M¹ï¤èªí©ú¡u³ßÅw¡vªº ...
    xanga.com/home.aspx?user=Kevin_F&nextdate=8/29/...
  • Mendelian Inheritance in Man Document Reader
    An M1I start codon mutation has been described in the HBB gene ... 0001) as the cause of gyrate atrophy, in the PAH gene (261600.0048) as the cause of phenylketonuria, and in ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+606829
  • FITS
    ... 07 / PAH Abundance (PAH/H) ABUNDD = 1.00000 / Dust Abundance wrt local ISM AV ... �Z3� �3�N�3�4�3�Ã"1�~M1�b�1Þ ï¿½2 Z�26 �2 ag2�� 3 X�3>ï ...
    dustem.astro.umd.edu/pdrt/coweb.fits
  • 41564.doc
    where M1i and M2i are the ith measurement of the two methodologies (M1 and M2) ... Quantification of the PAH, hopanes, steranes, and high MW alkanes is obtained by ...
    www.p2pays.org/ref/42/41564.doc
  • Stamboom Stamboom
    PAH gen: meer dan 300. PAH gen: meer dan 300. verschillende zijn ... M1I. M1I. G10G. G10G. S16P. S16P. IVS1+5G. IVS1+5G. T. T. delF39. delF39. S40L. S40L. L41F. L41F. K42I ...
    cs.uu.nl/docs/vakken/zl/.../dag2/Genidentificatie.pdf
  • RELCours6.ppt
    0*1*2*3*4*5*6*7*8*9*:*;*<*=*>*?A*B*C*D*E*F*G*H*I*J*K*L*M*N*O*P*Q*R*S ... 0*1*2*3*4*5*6*7*8*9*:*;*<*=*>*?A*B*C*D*E*F*G*H*I*J*K*L*M*N*O*P*Q*R*S*T*U*V*W*X*Y ...
    www.patrimoine.uqam.ca/IMG/ppt/RELCours6.ppt

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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