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UniProtKB/Swiss-Prot P05186: Variant p.Arg391His

Alkaline phosphatase, tissue-nonspecific isozyme
Gene: ALPL
Variant information

Variant position:  391
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Histidine (H) at position 391 (R391H, p.Arg391His).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (R) to medium size and polar (H)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In HOPSC and HOPS; severe allele; loss of alkaline phosphatase activity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  391
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  524
The length of the canonical sequence.

Location on the sequence:   TLTVVTADHSHVFTFGGYTP  R GNSIFGLAPMLSDTDKKPFT
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         TLTVVTADHSHVFTFGGYTPRGNSIFGLAPMLSDTDKKPFT

Mouse                         TLTVVTADHSHVFTFGGYTPRGNSIFGLAPMVSDTDKKPFT

Rat                           TLTVVTADHSHVFTFGGYTPRGNSIFGLAPMVSDTDKKPFT

Bovine                        TLTVVTADHSHVFTFGGYTPRGNSIFGLAPMVSDTDKKPFT

Cat                           TLTIVTADHSHVFTFGGYTPRGNSIFGLAPMVSDTDKKPFT

Chicken                       TLSVVTADHSHVFTFGGYTPRGNPIFGLAPMQSDVDRKPFT

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Chain 18 – 501 Alkaline phosphatase, tissue-nonspecific isozyme
Metal binding 378 – 378 Zinc 1
Metal binding 379 – 379 Zinc 1; via tele nitrogen


Literature citations

Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia.
Orimo H.; Girschick H.J.; Goseki-Sone M.; Ito M.; Oda K.; Shimada T.;
J. Bone Miner. Res. 16:2313-2319(2001)
Cited for: INVOLVEMENT IN HOPSC; VARIANTS HOPSC MET-68; SER-71; THR-177; TRP-223; PRO-275 AND HIS-391; CHARACTERIZATION OF VARIANTS HOPSC MET-68; SER-71; THR-177; TRP-223; PRO-275 AND HIS-391; VARIANT ALA-522; CHARACTERIZATION OF VARIANT ALA-522;

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.
Fauvert D.; Brun-Heath I.; Lia-Baldini A.S.; Bellazi L.; Taillandier A.; Serre J.L.; de Mazancourt P.; Mornet E.;
BMC Med. Genet. 10:51-51(2009)
Cited for: VARIANTS HOPS CYS-71; HIS-71; THR-111; THR-176; LYS-191; ARG-334; ASP-334; ARG-339; ILE-382; CYS-391; HIS-391; MET-414; ALA-420; LYS-452; LEU-459 AND ALA-476; CHARACTERIZATION OF VARIANTS HOPS CYS-71; HIS-71; THR-111; THR-176; LYS-191; ARG-334; ASP-334; ARG-339; ILE-382; CYS-391; HIS-391; MET-414; LYS-452; LEU-459 AND ALA-476;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.