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UniProtKB/Swiss-Prot P16278: Variant p.Arg482His

Beta-galactosidase
Gene: GLB1
Variant information

Variant position:  482
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Arginine (R) to Histidine (H) at position 482 (R482H, p.Arg482His).
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 MPS4B and GM1G1; severe decrease in galactosidase activity.
Any additional useful information about the variant.

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



Sequence information

Variant position:  482
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  677
The length of the canonical sequence.

Location on the sequence:   TLNITGKAGATLDLLVENMG  R VNYGAYINDFKGLVSNLTLS
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                         TLNITGKAGATLDLLVENMGRVNYGAYINDFKGLVSNLTLS

                              TLNITGKAGATLDLLVENMGRVNYGRYINDFKGLISNLTLG

Mouse                         ALNIRGKAGATLDILVENMGRVNYGRFINDFKGLISNMTIN

Bovine                        TLNITGKAGATLDLLVENMGRVNYGSSINDFKGLVSNLTLG

Cat                           TLNITGQAGATLDLLVENMGRVNYGRYINDFKGLISNLTLG

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 29 – 677 Beta-galactosidase
Glycosylation 464 – 464 N-linked (GlcNAc...) asparagine
Glycosylation 498 – 498 N-linked (GlcNAc...) asparagine


Literature citations

Human beta-galactosidase gene mutations in morquio B disease.
Oshima A.; Yoshida K.; Shimmoto M.; Fukuhara Y.; Sakuraba H.; Suzuki Y.;
Am. J. Hum. Genet. 49:1091-1093(1991)
Cited for: VARIANTS MPS4B LEU-273; HIS-482 AND CYS-509; VARIANT GM1G1 CYS-494;

A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient.
Mosna G.; Fattore S.; Tubiello G.; Brocca S.; Trubia M.; Gianazza E.; Gatti R.; Danesino C.; Minelli A.; Piantanida M.;
Hum. Genet. 90:247-250(1992)
Cited for: VARIANT GM1G1 HIS-482;

Beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
Morrone A.; Bardelli T.; Donati M.A.; Giorgi M.; Di Rocco M.; Gatti R.; Parini R.; Ricci R.; Taddeucci G.; D'Azzo A.; Zammarchi E.;
Hum. Mutat. 15:354-366(2000)
Cited for: VARIANTS GM1G1 HIS-59; HIS-482; ASN-591 AND CYS-591; VARIANTS GM1G2 HIS-201 AND ASP-579;

Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.
Caciotti A.; Donati M.A.; Boneh A.; d'Azzo A.; Federico A.; Parini R.; Antuzzi D.; Bardelli T.; Nosi D.; Kimonis V.; Zammarchi E.; Morrone A.;
Hum. Mutat. 25:285-292(2005)
Cited for: VARIANTS GM1G1 HIS-59; CYS-59; CYS-208; MET-239; TYR-281; HIS-482; ASP-579; ASN-591 AND CYS-591; VARIANT GM1G2 HIS-201; VARIANT CYS-521; CHARACTERIZATION OF VARIANTS GM1G1 HIS-59; CYS-59; CYS-208; MET-239; TYR-281; HIS-482; ASP-579; ASN-591 AND CYS-591; CHARACTERIZATION OF VARIANT GM1G2 HIS-201; CHARACTERIZATION OF VARIANT CYS-521; FUNCTION; CATALYTIC ACTIVITY;

Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies.
Tatano Y.; Takeuchi N.; Kuwahara J.; Sakuraba H.; Takahashi T.; Takada G.; Itoh K.;
J. Med. Invest. 53:103-112(2006)
Cited for: VARIANTS MPS4B LEU-273; HIS-482 AND CYS-509; VARIANTS GM1G1 CYS-201; HIS-201 AND HIS-318;

Recurrent and novel GLB1 mutations in India.
Bidchol A.M.; Dalal A.; Trivedi R.; Shukla A.; Nampoothiri S.; Sankar V.H.; Danda S.; Gupta N.; Kabra M.; Hebbar S.A.; Bhat R.Y.; Matta D.; Ekbote A.V.; Puri R.D.; Phadke S.R.; Gowrishankar K.; Aggarwal S.; Ranganath P.; Sharda S.; Kamate M.; Datar C.A.; Bhat K.; Kamath N.; Shah H.; Krishna S.; Gopinath P.M.; Verma I.C.; Nagarajaram H.A.; Satyamoorthy K.; Girisha K.M.;
Gene 567:173-181(2015)
Cited for: VARIANTS GM1G2 CYS-49; ARG-134; CYS-148; GLU-262; LEU-314; PRO-337; VAL-414; ASN-493; LEU-597 AND ILE-600; CHARACTERIZATION OF VARIANTS GM1G2 CYS-49; GLU-262; LEU-314; PRO-337; VAL-414; ASN-493; LEU-597 AND ILE-600; VARIANTS GM1G1 TRP-68; ARG-123; PRO-236; CYS-331; ASN-332; PRO-337; HIS-482 AND PRO-514; CHARACTERIZATION OF VARIANTS GM1G1 TRP-68; ARG-123; PRO-236; ASN-332; PRO-337; HIS-482 AND PRO-514; VARIANT GM1G3 PHE-297; CHARACTERIZATION OF VARIANT GM1G3 PHE-297; VARIANTS GLN-129 AND CYS-521; CATALYTIC ACTIVITY; FUNCTION;

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.