Variant position: 426 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 592 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 KNKDLPESALRDLIVATIAV KYTQSNSVCYAKNGQVIGIGA
Mouse KNKDLPESALRDLIVATVAV KYTQSNSVCYAKDGQVIGIGA
Rat KNKDLPESALRDLIVATIAV KYTQSNSVCYAKDGQVIGIGA
Bovine KNKDLPESALRDLIVATIAV KYTQSNSVCYAKNGQVIGIGA
Chicken KNKTLPESAVRDLIVASIAV KYTQSNSVCYAKDGQVIGIGA
Slime mold ENKP-TEQQMKDLLFAWRVS KHVKSNAIVLSKDETIVAIGA
Fission yeast KNKDLPKSALIDLVIATTAL KYTQSNSVCYAKNGMVVGLGA
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
1 – 592 Bifunctional purine biosynthesis protein ATIC
2 – 592 Bifunctional purine biosynthesis protein ATIC, N-terminally processed
199 – 592 AICAR formyltransferase
431 – 431 AICAR; shared with dimeric partner
412 – 426
AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC.
Marie S.; Heron B.; Bitoun P.; Timmerman T.; Van Den Berghe G.; Vincent M.-F.;
Am. J. Hum. Genet. 74:1276-1281(2004)
Cited for: INVOLVEMENT IN AICAR DISEASE; VARIANT AICAR ARG-426; CHARACTERIZATION OF VARIANT AICAR ARG-426;
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.