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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NRA2: Variant p.Lys136Glu

Sialin
Gene: SLC17A5
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Variant information Variant position: help 136 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 Lysine (K) to Glutamate (E) at position 136 (K136E, p.Lys136Glu). 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 large size and basic (K) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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 SD; alters intracellular localization, only partially targeted to lysosomes and mainly detected in LAMP1-negative vesicles and in the Golgi apparatus; completely devoid of L-aspartate and L-glutamate transporter activity, but retains appreciable H(+)-coupled sialic acid transporter activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 136 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 495 The length of the canonical sequence.
Location on the sequence: help FYGYIITQIPGGYVASKIGG K MLLGFGILGTAVLTLFTPIA 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                         FYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIA

Mouse                         FYGYIVTQIPGGYIASRVGGKLLLGLGILGTSVFTLFTPLA

Rat                           FYGYIVTQIPGGYMASRIGGKLLLGLGILGTAVFTLFTPLA

Sheep                         FYGYIITQIPGGYVASRSGGKLLLGFGIFATAIFTLFTPLA
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 1 – 495 Sialin
Topological domain 131 – 136 Cytoplasmic
Helix 135 – 151



Literature citations
Functional characterization of wild-type and mutant human sialin.
Morin P.; Sagne C.; Gasnier B.;
EMBO J. 23:4560-4570(2004)
Cited for: FUNCTION; TRANSPORT ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; SUBCELLULAR LOCATION; DILEUCINE MOTIF; MUTAGENESIS OF 22-LEU-LEU-23; 198-LEU-LEU-199 AND 266-ILE-LEU-267; CHARACTERIZATION OF VARIANTS SD CYS-39 AND GLU-136; CHARACTERIZATION OF VARIANTS ISSD ARG-183; 268-SER--ASN-272 DEL AND ARG-334; Functional characterization of vesicular excitatory amino acid transport by human sialin.
Miyaji T.; Omote H.; Moriyama Y.;
J. Neurochem. 119:1-5(2011)
Cited for: FUNCTION; TRANSPORT ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS SD CYS-39 AND GLU-136; CHARACTERIZATION OF VARIANTS ISSD ARG-183; 268-SER--ASN-272 DEL; GLU-328; ARG-334 AND VAL-371; The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.
Aula N.; Salomaeki P.; Timonen R.; Verheijen F.; Mancini G.M.S.; Maensson J.-E.; Aula P.; Peltonen L.;
Am. J. Hum. Genet. 67:832-840(2000)
Cited for: VARIANTS SD CYS-39 AND GLU-136; VARIANTS ISSD 268-SER--ASN-272 DEL; ARG-183; ARG-334 AND VAL-371;
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.