UniProtKB/Swiss-Prot P16278: Variant p.Arg521Cys

Beta-galactosidase
Gene: GLB1
Feedback?

Variant information Variant position:

521 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 Cysteine (C) at position 521 (R521C, p.Arg521Cys). 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 (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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:

In GM1G3; likely benign; galactosidase activity is reduced in homozygous patient fibroblasts to 30% of control values; has 25% of wild-type galactosidase activity when expressed in a heterologous system. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs4302331 [ dbSNP | Ensembl ]

Sequence information Variant position:

521 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:

LSSNILTDWTIFPLDTEDAV R SHLGGWGHRDSGHHDEAWAH 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                         LSSNILTDWTIFPLDTEDAVRSHLGGWGHRDSGHHD-EAWAH

                              LGSSILTNWMIFPLNTEDAVRSHLGGWHGPNNGRHD-KTFA

Mouse                         INSTVLTNWTVFPLNTEAMVRNHLWGREASDEGHLD-GRST

Bovine                        LGSKILTNWEIFPLDMEDAVRSHLGTWGGRDRGYHN-KARA

Cat                           LGSSVLTDWMIFPLDTEDAVRSHLGGWHGRNHGRQDNKAFA

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	29 – 677	Beta-galactosidase
Helix	516 – 521

Literature citations
The DNA sequence, annotation and analysis of human chromosome 3.
Muzny D.M.; Scherer S.E.; Kaul R.; Wang J.; Yu J.; Sudbrak R.; Buhay C.J.; Chen R.; Cree A.; Ding Y.; Dugan-Rocha S.; Gill R.; Gunaratne P.; Harris R.A.; Hawes A.C.; Hernandez J.; Hodgson A.V.; Hume J.; Jackson A.; Khan Z.M.; Kovar-Smith C.; Lewis L.R.; Lozado R.J.; Metzker M.L.; Milosavljevic A.; Miner G.R.; Morgan M.B.; Nazareth L.V.; Scott G.; Sodergren E.; Song X.-Z.; Steffen D.; Wei S.; Wheeler D.A.; Wright M.W.; Worley K.C.; Yuan Y.; Zhang Z.; Adams C.Q.; Ansari-Lari M.A.; Ayele M.; Brown M.J.; Chen G.; Chen Z.; Clendenning J.; Clerc-Blankenburg K.P.; Chen R.; Chen Z.; Davis C.; Delgado O.; Dinh H.H.; Dong W.; Draper H.; Ernst S.; Fu G.; Gonzalez-Garay M.L.; Garcia D.K.; Gillett W.; Gu J.; Hao B.; Haugen E.; Havlak P.; He X.; Hennig S.; Hu S.; Huang W.; Jackson L.R.; Jacob L.S.; Kelly S.H.; Kube M.; Levy R.; Li Z.; Liu B.; Liu J.; Liu W.; Lu J.; Maheshwari M.; Nguyen B.-V.; Okwuonu G.O.; Palmeiri A.; Pasternak S.; Perez L.M.; Phelps K.A.; Plopper F.J.; Qiang B.; Raymond C.; Rodriguez R.; Saenphimmachak C.; Santibanez J.; Shen H.; Shen Y.; Subramanian S.; Tabor P.E.; Verduzco D.; Waldron L.; Wang J.; Wang J.; Wang Q.; Williams G.A.; Wong G.K.-S.; Yao Z.; Zhang J.; Zhang X.; Zhao G.; Zhou J.; Zhou Y.; Nelson D.; Lehrach H.; Reinhardt R.; Naylor S.L.; Yang H.; Olson M.; Weinstock G.; Gibbs R.A.;
Nature 440:1194-1198(2006)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT CYS-521; Six novel beta-galactosidase gene mutations in Brazilian patients with GM1-gangliosidosis.
Silva C.M.D.; Severini M.H.; Sopelsa A.; Coelho J.C.; Zaha A.; d'Azzo A.; Giugliani R.;
Hum. Mutat. 13:401-409(1999)
Cited for: VARIANTS GM1G1 HIS-59; SER-121; CYS-208; MET-240 AND ASN-491; VARIANTS LEU-10; CYS-521 AND GLY-532; 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 GM1G3 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 GM1G3 CYS-521; FUNCTION; CATALYTIC ACTIVITY; Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among Gypsies.
Santamaria R.; Chabas A.; Coll M.J.; Miranda C.S.; Vilageliu L.; Grinberg D.;
Hum. Mutat. 27:1060-1060(2006)
Cited for: VARIANTS GM1G1 CYS-59; HIS-59; SER-136; VAL-151; PRO-173; CYS-199; ASP-272; ASN-346; CYS-347; PRO-420; ARG-422; ASN-441 AND CYS-590; VARIANT GM1G2 SER-264; VARIANTS GM1G3 HIS-201 AND LYS-420; VARIANTS MPS4B CYS-83; CYS-444; SER-494 AND ALA-500; VARIANTS PHE-436; CYS-521 AND GLY-532; Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients.
Santamaria R.; Chabas A.; Callahan J.W.; Grinberg D.; Vilageliu L.;
J. Lipid Res. 48:2275-2282(2007)
Cited for: CHARACTERIZATION OF VARIANTS GM1G1 HIS-59; SER-162; PRO-173; HIS-201; PRO-420; ASN-441 AND CYS-590; CHARACTERIZATION OF VARIANTS MPS4B CYS-83; CYS-444 AND SER-494; CHARACTERIZATION OF VARIANT GM1G3 LYS-420 AND CYS-521; CHARACTERIZATION OF VARIANT GLY-532; 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.