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UniProtKB/Swiss-Prot P17900: Variant p.Ile59Val

Ganglioside GM2 activator
Gene: GM2A
Variant information

Variant position:  59
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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 Isoleucine (I) to Valine (V) at position 59 (I59V, p.Ile59Val).
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:  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:  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

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



Sequence information

Variant position:  59
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  193
The length of the canonical sequence.

Location on the sequence:   CDEGKDPAVIRSLTLEPDPI  I VPGNVTLSVMGSTSVPLSSP
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.

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 32 – 193 Ganglioside GM2 activator
Chain 34 – 193 Ganglioside GM2 activator isoform short
Glycosylation 63 – 63 N-linked (GlcNAc...) asparagine
Disulfide bond 39 – 183
Beta strand 45 – 74


Literature citations

Isolation and expression of a full-length cDNA encoding the human G-M2 activator protein.
Xie B.; McInnes B.; Neote K.; Lamhonwah A.-M.; Mahuran D.;
Biochem. Biophys. Res. Commun. 177:1217-1223(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS VAL-59 AND VAL-69;

Characterization of full-length cDNAs and the gene coding for the human GM2 activator protein.
Klima H.; Tanaka A.; Schnabel D.; Nakano T.; Schroeder M.; Suzuki K.; Sandhoff K.;
FEBS Lett. 289:260-264(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS THR-19; VAL-59 AND VAL-69;

Identification of a processed pseudogene related to the functional gene encoding the GM2 activator protein: localization of the pseudogene to human chromosome 3 and the functional gene to human chromosome 5.
Xie B.; Kennedy J.L.; McInnes B.; Auger D.; Mahuran D.J.;
Genomics 14:796-798(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS THR-19; VAL-59 AND VAL-69;

Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2.
Chen B.; Rigat B.; Curry C.; Mahuran D.J.;
Am. J. Hum. Genet. 65:77-87(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-19; VAL-59 AND VAL-69;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS VAL-59 AND VAL-69;

Isolation of a cDNA encoding the human GM2 activator protein.
Schroeder M.; Klima H.; Nakano T.; Kwon H.; Quintern L.E.; Gaertner S.; Suzuki K.; Sandhoff K.;
FEBS Lett. 251:197-200(1989)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 15-193; VARIANTS THR-19; VAL-59 AND VAL-69;

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.