UniProtKB/Swiss-Prot P05186: Variant p.Tyr263His

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

263 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Tyrosine (Y) to Histidine (H) at position 263 (Y263H, p.Tyr263His). 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 aromatic (Y) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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
Other resources:

Links to websites of interest for the variant.

Variant rs3200254 [ dbSNP | Ensembl ]

Sequence information Variant position:

263 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:

RGTRLDGLDLVDTWKSFKPR Y KHSHFIWNRTELLTLDPHNV 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                         RGTRLDGLDLVDTWKSFKPRYKHSHFIWNRTELLTLDPHNV

Mouse                         RGTRLDGLDLISIWKSFKPRHKHSHYVWNRTELLALDPSRV

Rat                           RGTRLDGLDLISIWKSFKPRHKHSHYVWNRTELLALDPSRV

Bovine                        RGTRLDGLNLIDIWKSFKPKHKHSHYVWNRTDLLALDPHSV

Cat                           RGTRLDGLNLVDIWKSFKPRHKHSHYVWNRTELLTLDPYGV

Chicken                       RGTRLDGKDLVQAWHDTKPAGKVAKYVWHRRELLALNVSRV

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.

Type	Positions	Description
Chain	18 – 501	Alkaline phosphatase, tissue-nonspecific isozyme
Glycosylation	271 – 271	N-linked (GlcNAc...) asparagine
Mutagenesis	270 – 270	W -> A. Reduced alkaline phosphatase activity.
Mutagenesis	272 – 272	R -> A. Reduced alkaline phosphatase activity.

Literature citations
Nucleotide sequence of the human liver-type alkaline phosphatase cDNA.
Kishi F.; Matsuura S.; Kajii T.;
Nucleic Acids Res. 17:2129-2129(1989)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT HIS-263; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT HIS-263; Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.
Henthorn P.S.; Raducha M.; Fedde K.N.; Lafferty M.A.; Whyte M.P.;
Proc. Natl. Acad. Sci. U.S.A. 89:9924-9928(1992)
Cited for: VARIANTS HOPS VAL-33; CYS-71; PRO-71; LYS-191; PRO-207; ALA-294; VAL-378 AND HIS-436; VARIANT HIS-263; Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.
Mornet E.; Taillandier A.; Peyramaure S.; Kaper F.; Muller F.; Brenner R.; Bussiere P.; Freisinger P.; Godard J.; Le Merrer M.; Oury J.F.; Plauchu H.; Puddu R.; Rival J.M.; Superti-Furga A.; Touraine R.L.; Serre J.L.; Simon-Bouy B.;
Eur. J. Hum. Genet. 6:308-314(1998)
Cited for: VARIANTS HOPS PHE-17; VAL-40; SER-75; ARG-120; ARG-129; ASP-170; TRP-184; LYS-191; TRP-223; LYS-291; ASP-334; PRO-445; CYS-450; SER-473 AND ARG-491; VARIANT HIS-263; Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia.
Mumm S.; Jones J.; Finnegan P.; Henthorn P.S.; Podgornik M.N.; Whyte M.P.;
Mol. Genet. Metab. 75:143-153(2002)
Cited for: VARIANTS HOPS SER-51; HIS-71; THR-111; MET-128; HIS-134; HIS-136; THR-176; LYS-191; GLN-223; TRP-223; SER-246; ALA-294; PRO-299; PHE-327 DEL; ARG-339; THR-348; VAL-378; MET-414; ASP-426 AND LYS-476; VARIANTS HIS-263 AND ALA-522;

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.