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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60779: Variant p.Asp93His

Thiamine transporter 1
Gene: SLC19A2
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Variant information Variant position: help 93 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 Aspartate (D) to Histidine (H) at position 93 (D93H, p.Asp93His). 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 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: 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 TRMA. Any additional useful information about the variant.


Sequence information Variant position: help 93 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 497 The length of the canonical sequence.
Location on the sequence: help IYPVWTYSYLVLLFPVFLAT D YLRYKPVVLLQGLSLIVTWF 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                         IYPVWTYSYLVLLFPVFLATDYLRYKPVVLLQGLSLIVTWF

Mouse                         IYPVWTYSYLLLLFPVFLATDYLRYKPVILLQGLSLIVTWF
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 – 497 Thiamine transporter 1
Topological domain 92 – 99 Cytoplasmic
Site 104 – 104 Essential for pyridoxine transport
Site 105 – 105 Essential for pyridoxine transport
Site 109 – 109 Essential for pyridoxine transport
Site 111 – 111 Essential for pyridoxine transport
Site 112 – 112 Essential for pyridoxine transport
Alternative sequence 69 – 269 Missing. In isoform 2.
Mutagenesis 104 – 104 Q -> H. Loss of pyridoxine transport; when associated with V-105; A-109; S-111; Y-112; P-186 and F-191.
Mutagenesis 105 – 105 G -> V. Loss of pyridoxine transport; when associated with H-104; A-109; S-111; Y-112; P-186 and F-191.
Mutagenesis 109 – 109 I -> A. Loss of pyridoxine transport; when associated with H-104; V-105; S-111; Y-112; P-186 and F-191.
Mutagenesis 111 – 111 T -> S. Loss of pyridoxine transport; when associated with H-104; V-105; A-109; Y-112; P-186 and F-191.
Mutagenesis 112 – 112 W -> Y. Loss of pyridoxine transport; when associated with H-104; V-105; A-109; S-111; P-186 and F-191.



Literature citations
The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.
Raz T.; Labay V.; Baron D.; Szargel R.; Anbinder Y.; Barrett T.; Rabl W.; Viana M.B.; Mandel H.; Baruchel A.; Cayuela J.-M.; Cohen N.;
Hum. Mutat. 16:37-42(2000)
Cited for: VARIANTS TRMA HIS-93 AND PHE-143;
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.