Sequence information
Variant position: 404 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 458 The length of the canonical sequence.
Location on the sequence:
FPDVQHGVLIHKVILGSPAH
R AGLRPGDVILAIGEQMVQNA
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 FP-DVQHGVLIHKVILGSPAHR AGLRPGDVILAIGEQMVQNA
Mouse FP-DVQHGVLIHKVILGSPAHR AGLRPGDVILAIGEKLAQN
Bovine FP-DVQHGVLIHKVILDSPAHR AGLRPGDVILAIGEQLVQN
Drosophila MPSNLTHGVLVWKVIVGSPAHS GGLQPGDIVTHINKKEIKN
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
Chain
134 – 458
Serine protease HTRA2, mitochondrial
Domain
364 – 445
PDZ
Alternative sequence
314 – 458
DGEVIGVNTMKVTAGISFAIPSDRLREFLHRGEKKNSSSGISGSQRRYIGVMMLTLSPSILAELQLREPSFPDVQHGVLIHKVILGSPAHRAGLRPGDVILAIGEQMVQNAEDVYEAVRTQSQLAVQIRRGRETLTLYVTPEVTE -> VSETSFLPRIPAPGQCGKGRFPLIQGCLVKFLSSSLLAISQYPTRSPQHLLVLLFGCPHPLLFV. In isoform 4.
Helix
401 – 405
Literature citations
Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.
Mandel H.; Saita S.; Edvardson S.; Jalas C.; Shaag A.; Goldsher D.; Vlodavsky E.; Langer T.; Elpeleg O.;
J. Med. Genet. 53:690-696(2016)
Cited for: INVOLVEMENT IN MGCA8; VARIANT MGCA8 GLN-404; CHARACTERIZATION OF VARIANT MGCA8 GLN-404;
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.