The Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database

 

Polymorphisms of the ALPL gene

15 polymorphisms are listed in the database. These polymorphisms are routinely detected in diagnosis procedures because located within the coding sequence or close to the intron/exon borders.

Exon Nucleotide change
Amino acid change
Reference Frequency Nb of tested individuals  
standardized
nomenclature
non standardized nomenclature
IVS5 c.472+12delG     Mornet E 2000 0.07 35  
5 c.330C>T p.Ser110Ser Ser93Ser Greenberg et al. 1993 0.05 30  
5 c.455G>A p.Arg152His Arg135His Mumm et al. 2002 0.02 168  
6 c.510C>T p.Asn170Asn Asn153Asn Versailles lab. 2011 nd    
7 c.787T>C p.Tyr263His Tyr246His Henthorn et al. 1992 0.33 73 *
IVS7 c.793-31C>T     Mornet E 2000 0.21 21  
IVS8 c.862+20G>T     Mornet E 2000 0.07 23  
IVS8 c.862+51G>A       nd    
IVS8 c.862+58C>T     Mornet E 2000 ** 0.12 20  
IVS8 c.863-7T>C       nd    
IVS8 c.863-12C>G     Orimo et al. 1997 0.06 42  
9 c.876A>G p.Pro292Pro Pro275Pro Henthorn et al. 1992 0.47 71  
IVS10 c.1189+19G>T     NCBI SNP database 0.042 60  
11 c.1266G>A p.Lys422Lys Lys405Lys Versailles lab 2011 nd    
12 c.1542T>G p.Ala514Ala Ala497Ala NCBI SNP database 0.013 39  
12 c.1565T>C p.Val522Ala Val505Ala Greenberg et al. 1993 0.26 47 ***

See the NCBI site for other ALPL gene poymorphisms by clicking this link.

See the ENSembl site for other ALPL gene polymorphisms by clicking this link.

See the Hapmap site for other ALPL gene polymorphisms by clicking this link.

Notes

* also tested by Mornet et al. (2000) in the French population : freq = 0.08, N = 52 tested individuals.

** formerly named by error 862+59G>T in Mornet E. 2000.

*** also tested by Mornet et al. (2000) in the French population : freq = 0.06, N = 42 tested individuals.