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:
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 RYWLNGDFRKGDVSLTIENV TLADSGIYCCRIQIPGIMNDE
Mouse RYQLKGDLNKGDVSLIIKNV TLDDHGTYCCRIQFPGLMNDK
Rat RYQLKGNFYKGDMSLTIKNV TLADSGTYCCRIQFPGPMNDE
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.
Type Positions Description
22 – 301 Hepatitis A virus cellular receptor 2
22 – 202 Extracellular
22 – 124 Ig-like V-type
116 – 116 Calcium; via carbonyl oxygen
119 – 119 Calcium
111 – 111 Phosphatidylserine
118 – 118 Phosphatidylserine; via amide nitrogen
38 – 110
58 – 109
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;
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.