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UniProtKB/Swiss-Prot Q99519: Variant p.Trp240Arg

Sialidase-1
Gene: NEU1
Variant information

Variant position:  240
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 Tryptophan (W) to Arginine (R) at position 240 (W240R, p.Trp240Arg).
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 aromatic (W) to large size and basic (R)
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 SIALIDOSIS; type 2; no enzyme activity; retained in the endoplasmic reticulum / Golgi or rapidly degraded in the lysosomes.
Any additional useful information about the variant.

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



Sequence information

Variant position:  240
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  415
The length of the canonical sequence.

Location on the sequence:   HGTLERDGVFCLLSDDHGAS  W RYGSGVSGIPYGQPKQENDF
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                         HGTLERDGVFCLLSDDHGASWRYGSGVSGIPYGQPKQENDF

Mouse                         HGTLERDGVFCLLSDDHGASWHYGTGVSGIPFGQPKHDHDF

Rat                           HGTLERDGVFCLLSDDHGASWHYGTGVSGIPFGQPKHDHDF

Pig                           HGTLERDGVFCLLSDDHGASWRYGSGISGIPYGQPKRENDF

Bovine                        HGTLERDGVFCLLSDDHGVSWRYGGGVSGIPYGQPKRENDF

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 48 – 415 Sialidase-1
Repeat 231 – 242 BNR 3


Literature citations

Mutations in sialidosis impair sialidase binding to the lysosomal multienzyme complex.
Lukong K.E.; Landry K.; Elsliger M.-A.; Chang Y.; Lefrancois S.; Morales C.R.; Pshezhetsky A.V.;
J. Biol. Chem. 276:17286-17290(2001)
Cited for: VARIANTS SIALIDOSIS VAL-68; GLY-182; ARG-227; ARG-240; TYR-260; PHE-270; VAL-298; SER-328 AND PRO-363; CHARACTERIZATION OF VARIANTS SIALIDOSIS VAL-68; GLY-182; ARG-227; TYR-260; PHE-270; VAL-298; SER-328 AND PRO-363;

Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes.
Itoh K.; Naganawa Y.; Matsuzawa F.; Aikawa S.; Doi H.; Sasagasako N.; Yamada T.; Kira J.; Kobayashi T.; Pshezhetsky A.V.; Sakuraba H.;
J. Hum. Genet. 47:29-37(2002)
Cited for: VARIANTS SIALIDOSIS LEU-80; ARG-240 AND SER-316;

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.