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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P05186: Variant p.Glu191Gly

Alkaline phosphatase, tissue-nonspecific isozyme
Gene: ALPL
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Variant information Variant position: help 191
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamate (E) to Glycine (G) at position 191 (E191G, p.Glu191Gly).
Physico-chemical properties: help Change from medium size and acidic (E) to glycine (G)
BLOSUM score: help -2
Variant description: help In HOPS; odonto; slightly reduced alkaline phosphatase activity.


Sequence information Variant position: help 191
Protein sequence length: help 524
Location on the sequence: help HATPSAAYAHSADRDWYSDN E MPPEALSQGCKDIAYQLMHN
Residue conservation: help
Human                         HATPSAAYAHSADRDWYSDNEMPPEALSQGCKDIAYQLMHN

Mouse                         HATPSAAYAHSADRDWYSDNEMPPEALSQGCKDIAYQLMHN

Rat                           HATPSAAYAHSADRDWYSDNEMPPEALSQGCKDIAYQLMHN

Bovine                        HATPSASYAHSADRDWYSDNEMPPEALSQGCKDIAYQLMHN

Cat                           HATPSAAYAHSADRDWYSDNEMPPEALSQGCKDIAYQLMHN

Chicken                       HATPSAAYAHSANRDWYSDGEMPLDALEGGCKDIARQLVDN

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 18 – 501 Alkaline phosphatase, tissue-nonspecific isozyme
Binding site 173 – 173
Disulfide bond 139 – 201
Turn 189 – 191



Literature citations
Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients.
Goseki-Sone M.; Orimo H.; Iimura T.; Takagi Y.; Watanabe H.; Taketa K.; Sato S.; Mayanagi H.; Shimada T.; Oida S.;
Hum. Mutat. Suppl. 1:S263-S267(1998)
Cited for: VARIANTS HOPS THR-111; THR-177; GLY-191; LEU-327 AND ILE-382; Kinetic characterization of hypophosphatasia mutations with physiological substrates.
Di Mauro S.; Manes T.; Hessle L.; Kozlenkov A.; Pizauro J.M.; Hoylaerts M.F.; Millan J.L.;
J. Bone Miner. Res. 17:1383-1391(2002)
Cited for: VARIANTS HOPS VAL-33; CYS-71; PRO-71; THR-111; VAL-132; THR-177; THR-179; GLY-191; LYS-191; TRP-223; ALA-294; ASP-334; VAL-378; ILE-382 AND ARG-456; VARIANT HPPI LYS-298; CHARACTERIZATION OF VARIANTS HOPS VAL-33; CYS-71; PRO-71; THR-111; VAL-132; THR-177; THR-179; GLY-191; LYS-191; TRP-223; ALA-294; ASP-334; VAL-378; ILE-382 AND ARG-456; CHARACTERIZATION OF VARIANT HPPI LYS-298; FUNCTION; CATALYTIC ACTIVITY;
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.