Variant position: 104 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 189 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 ESAAVKEILKEQENRKGLIA AICAGPTALLAHEIGFGSKVT
Mouse ESPMVKEILKEQESRKGLIA AICAGPTALLAHEVGFGCKVT
Rat ESALVKEILKEQENRKGLIA AICAGPTALLAHEVGFGCKVT
Bovine ESAAVKEILKEQEKRKGLIA AICAGPTALLAHEIGFGSKVT
Chicken ESAAVKDILKDQESRKGLIA AICAGPTALLAHGIGFGSKVI
Zebrafish ESPAVKEVLKDQEGRKGLIA AICAGPTALLAHGIAYGSTVT
Slime mold YSEDVSQLIRDFDSKGKHIA SVCVAALALGKSGILKGRNAT
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
106 – 106
106 – 106 Cysteine sulfinic acid (-SO2H)
106 – 106 S-palmitoyl cysteine
106 – 106 C -> A. Abolishes oxidation, association with mitochondria and protease activity. No effect on chaperone activity. Reduced binding to OTUD7B.
106 – 106 C -> A. Reduced localization in lipid rafts; when associated with A-46.
106 – 106 C -> D. Abolishes oxidation and association with mitochondria. No effect on chaperone activity.
106 – 106 C -> S. No effect on mitochondrial translocation. Reduced protease activity.
101 – 105
Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations.
Clark L.N.; Afridi S.; Mejia-Santana H.; Harris J.; Louis E.D.; Cote L.J.; Andrews H.; Singleton A.; Wavrant De-Vrieze F.; Hardy J.; Mayeux R.; Fahn S.; Waters C.; Ford B.; Frucht S.; Ottman R.; Marder K.;
Mov. Disord. 19:796-800(2004)
Cited for: VARIANT PARK7 THR-104; VARIANTS GLN-98 AND SER-171;
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.