Home  |  Contact

UniProtKB/Swiss-Prot Q8TDQ0: Variant p.Thr101Ile

Hepatitis A virus cellular receptor 2
Gene: HAVCR2
Variant information

Variant position:  101
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 Threonine (T) to Isoleucine (I) at position 101 (T101I, p.Thr101Ile).
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 polar (T) to medium size and hydrophobic (I)
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 SPTCL; may be associated with disease susceptibility.
Any additional useful information about the variant.

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



Sequence information

Variant position:  101
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  301
The length of the canonical sequence.

Location on the sequence:   RYWLNGDFRKGDVSLTIENV  T LADSGIYCCRIQIPGIMNDE
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                         RYWLNGDFRKGDVSLTIENVTLADSGIYCCRIQIPGIMNDE

Mouse                         RYQLKGDLNKGDVSLIIKNVTLDDHGTYCCRIQFPGLMNDK

Rat                           RYQLKGNFYKGDMSLTIKNVTLADSGTYCCRIQFPGPMNDE

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 22 – 301 Hepatitis A virus cellular receptor 2
Topological domain 22 – 202 Extracellular
Domain 22 – 124 Ig-like V-type
Metal binding 116 – 116 Calcium; via carbonyl oxygen
Metal binding 119 – 119 Calcium
Binding site 111 – 111 Phosphatidylserine
Binding site 118 – 118 Phosphatidylserine; via amide nitrogen
Disulfide bond 38 – 110
Disulfide bond 58 – 109


Literature citations

Novel human hepatitis A virus cellular receptor.
Zhang W.; Wan T.; Li N.; Cao X.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT LEU-140; VARIANT SPTCL ILE-101;

Frequent germline mutations of HAVCR2 in sporadic subcutaneous panniculitis-like T-cell lymphoma.
Polprasert C.; Takeuchi Y.; Kakiuchi N.; Yoshida K.; Assanasen T.; Sitthi W.; Bunworasate U.; Pirunsarn A.; Wudhikarn K.; Lawasut P.; Uaprasert N.; Kongkiatkamon S.; Moonla C.; Sanada M.; Akita N.; Takeda J.; Fujii Y.; Suzuki H.; Nannya Y.; Shiraishi Y.; Chiba K.; Tanaka H.; Miyano S.; Rojnuckarin P.; Ogawa S.; Makishima H.;
Blood Adv. 3:588-595(2019)
Cited for: INVOLVEMENT IN SPTCL; VARIANTS SPTCL CYS-82 AND ILE-101;

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.