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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P16278: Variant p.Leu236Pro

Beta-galactosidase
Gene: GLB1
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Variant information Variant position: help 236 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 Leucine (L) to Proline (P) at position 236 (L236P, p.Leu236Pro). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. 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; decrease in galactosidase activity. Any additional useful information about the variant.


Sequence information Variant position: help 236 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 VLFTTDGAHKTFLKCGALQG L YTTVDFGTGSNITDAFLSQR 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                         VLFTTDGAHKTFLKCGALQGLYTTVDFGTGSNITDAFLSQR

                              LLFTTDGANEKFLQCGALQGLYATVDFGPGANITAAFQIQR

Mouse                         ILFTTDGASEKMLKCGTLQDLYATVDFGTGNNITQAFLVQR

Bovine                        LLFTTDGVNERLLQCGALQGLYATVDFSPGTNLTAAFMLQR

Cat                           LLFTTDGAHEKFLQCGALQGIYATVDFGPDANITAAFQIQR
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
Glycosylation 247 – 247 N-linked (GlcNAc...) asparagine
Alternative sequence 83 – 244 YVPWNFHEPWPGQYQFSEDHDVEYFLRLAHELGLLVILRPGPYICAEWEMGGLPAWLLEKESILLRSSDPDYLAAVDKWLGVLLPKMKPLLYQNGGPVITVQVENEYGSYFACDFDYLRFLQKRFRHHLGDDVVLFTTDGAHKTFLKCGALQGLYTTVDFGT -> LPGSCGQVVGSPSAQDEASPLSEWRASYNSA. In isoform 2.
Beta strand 236 – 241



Literature citations
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.