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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P16278: Variant p.Asp151Tyr

Beta-galactosidase
Gene: GLB1
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Variant information Variant position: help 151 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Aspartate (D) to Tyrosine (Y) at position 151 (D151Y, p.Asp151Tyr). 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: help Change from medium size and acidic (D) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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: help In GM1G1; complete lack of protein; loss of galactosidase activity. Any additional useful information about the variant.


Sequence information Variant position: help 151 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 677 The length of the canonical sequence.
Location on the sequence: help EMGGLPAWLLEKESILLRSS D PDYLAAVDKWLGVLLPKMKP 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         EMGGLPAWLLEKESILLRSSDPDYLAAVDKWLGVLLPKMKP

                              DMGGLPAWLLLKESIILRSSDPDYLAAVDKWLGVLLPKMKP

Mouse                         DMGGLPAWLLEKQSIVLRSSDPDYLVAVDKWLAVLLPKMKP

Bovine                        DMGGLPAWLLEKKSIVLRSSDPDYLAAVDKWLGVLLPKMRP

Cat                           DMGGLPAWLLLKESIILRSSDPDYLAAVDKWLGVLLPKMKP
Sequence annotation in neighborhood: help 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
Alternative sequence 83 – 244 YVPWNFHEPWPGQYQFSEDHDVEYFLRLAHELGLLVILRPGPYICAEWEMGGLPAWLLEKESILLRSSDPDYLAAVDKWLGVLLPKMKPLLYQNGGPVITVQVENEYGSYFACDFDYLRFLQKRFRHHLGDDVVLFTTDGAHKTFLKCGALQGLYTTVDFGT -> LPGSCGQVVGSPSAQDEASPLSEWRASYNSA. In isoform 2.



Literature citations
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
Georgiou T.; Drousiotou A.; Campos Y.; Caciotti A.; Sztriha L.; Gururaj A.; Ozand P.; Zammarchi E.; Morrone A.; D'Azzo A.;
Hum. Mutat. 24:352-352(2004)
Cited for: VARIANT GM1G1 TYR-151; CHARACTERIZATION OF VARIANT GM1G1 TYR-151; Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis.
Gururaj A.; Sztriha L.; Hertecant J.; Johansen J.G.; Georgiou T.; Campos Y.; Drousiotou A.; d'Azzo A.;
J. Child Neurol. 20:57-60(2005)
Cited for: VARIANT GM1G1 TYR-151; VARIANT LEU-10;
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.