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UniProtKB/Swiss-Prot Q9HAS3: Variant p.Asp62His

Solute carrier family 28 member 3
Gene: SLC28A3
Variant information

Variant position:  62
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 Aspartate (D) to Histidine (H) at position 62 (D62H, p.Asp62His).
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 medium size and acidic (D) to medium size and polar (H)
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

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



Sequence information

Variant position:  62
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  691
The length of the canonical sequence.

Location on the sequence:   VQSREHTNTKQDEEQVTVEQ  D SPRNREHMEDDDEEMQQKGC
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                         VQSREHTNTKQDEEQVTVEQDSPRNREHMEDDDEEMQQKGC

Mouse                         VQSGEQGHAKQDDRQITIEQEPLGNKEDPEDDSEDEHQKGF

Rat                           VQSGEQGRAKQDDRQITIEQEPLGPKEGTEEESEDERQKGF

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 – 691 Solute carrier family 28 member 3
Topological domain 1 – 102 Cytoplasmic
Region 1 – 78 Disordered
Compositional bias 44 – 78 Basic and acidic residues
Alternative sequence 1 – 69 Missing. In isoform 2.


Literature citations

Functional analysis of genetic variants in the human concentrative nucleoside transporter 3 (CNT3; SLC28A3).
Badagnani I.; Chan W.; Castro R.A.; Brett C.M.; Huang C.C.; Stryke D.; Kawamoto M.; Johns S.J.; Ferrin T.E.; Carlson E.J.; Burchard E.G.; Giacomini K.M.;
Pharmacogenomics J. 5:157-165(2005)
Cited for: VARIANTS LYS-4; ASN-5; HIS-62; LYS-67; CYS-113; VAL-328; GLN-349; ARG-367; ILE-418 AND HIS-585; CHARACTERIZATION OF VARIANT ARG-367;

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.