Variant position: 244 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 282 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 TTATPTHCAYDRIVVAGMLL RGAVVPDSALPFNFQAAYGLS
Mouse TTVTSTHCAYDRIVVAGALL QAAVVPNSAVPFDFQAEYGLS
Rat TTATSTHCAYDRIVVAGALL QAAVVPSSAVPFDFQAEYRLT
Pig TTVSSTHCAYDRIVVAGPLL QRAVVPDSAAPFDFQAAFGLS
Bovine TTATSTNCAYDRIVVAGSLL QSSVVPGSAAPFDFQAAYGLS
Rabbit TTATSTNCAYDRIVVAGPLL QDAVVPNSAAPFNFQAAYGLS
Sheep TTATSTNCAYDRIVVAGSLL QSSVVGPSAVPFDFQAAYGLS
Horse TTVKSTHCAYDRIVVAGTLL QEAVVPDSAVPFDFQAAYGLN
Chicken TTVTSTDCAYDRIVACGSAL RQAVEYGSATVNNFQETLRIQ
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.
Structure of the human deoxyribonuclease I (DNase I) gene: identification of the nucleotide substitution that generates its classical genetic polymorphism.
Yasuda T.; Kishi K.; Yanagawa Y.; Yoshida A.;
Ann. Hum. Genet. 59:1-15(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLN-244;
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.