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UniProtKB/Swiss-Prot Q11203: Variant p.Ala320Pro

CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase
Gene: ST3GAL3
Variant information

Variant position:  320
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 Alanine (A) to Proline (P) at position 320 (A320P, p.Ala320Pro).
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 small size and hydrophobic (A) to medium size and hydrophobic (P)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In DEE15.
Any additional useful information about the variant.



Sequence information

Variant position:  320
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  375
The length of the canonical sequence.

Location on the sequence:   PTLGSVAVTMALHGCDEVAV  A GFGYDMSTPNAPLHYYETVR
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                         PTLGSVAVTMALHGCDEVAVAGFGYDMSTPNAPLHYYETVR

Chimpanzee                    PTLGSVAVTMALHGCDEVAVAGFGYDMSTPNAPLHYYETVR

Mouse                         PTLGSVAVTMALHGCDEVAVAGFGYDMNTPNAPLHYYETVR

Rat                           PTLGSVAVTMALDGCDEVAVAGFGYDMNTPNAPLHYYETVR

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 1 – 375 CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase
Topological domain 29 – 375 Lumenal
Alternative sequence 44 – 375 Missing. In isoform E1.
Alternative sequence 74 – 375 Missing. In isoform E3+32.
Alternative sequence 116 – 375 Missing. In isoform B4+173.
Alternative sequence 118 – 375 Missing. In isoform C12.
Alternative sequence 122 – 375 Missing. In isoform B5+173.
Alternative sequence 152 – 375 Missing. In isoform B10.
Alternative sequence 156 – 375 Missing. In isoform A7, isoform B7 and isoform C7.
Alternative sequence 187 – 375 Missing. In isoform B5+26 and isoform D2+26.
Alternative sequence 190 – 375 Missing. In isoform B1+32.
Alternative sequence 203 – 375 Missing. In isoform C5 and isoform D5.
Alternative sequence 245 – 375 Missing. In isoform C9.
Alternative sequence 249 – 346 Missing. In isoform B4, isoform C4 and isoform C11.


Literature citations

West syndrome caused by ST3Gal-III deficiency.
Edvardson S.; Baumann A.M.; Muehlenhoff M.; Stephan O.; Kuss A.W.; Shaag A.; He L.; Zenvirt S.; Tanzi R.; Gerardy-Schahn R.; Elpeleg O.;
Epilepsia 54:E24-E27(2013)
Cited for: VARIANT DEE15 PRO-320; CHARACTERIZATION OF VARIANT DEE15 PRO-320;

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.