Variant position: 801 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 911 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 HGGALGPEEFKACLISLGYD VENDRQGEAEFNRIMSLVDPN
Mouse HGGALGPEEFKACLISLGYD VENDRQGDAEFNRIMSVVDPN
Rat HGGALGPEEFKACLISLGYD VENDRQGDAEFNRIMSVVDPN
Bovine HGGALGPEEFKACLISLGYD VENDRQGDAEFNRIMSVVDPN
Chicken HCGALGPEEFKACLISLGYD VENDRQGDAEFNRIMSLVDPN
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 – 911 Alpha-actinin-4
736 – 911 Mediates interaction with MICALL2
789 – 789 Calcium
Mutational analysis of ACTN4, encoding alpha-actinin 4, in patients with focal segmental glomerulosclerosis using HRM method.
Safarikova M.; Reiterova J.; Safrankova H.; Stekrova J.; Zidkova A.; Obeidova L.; Kohoutova M.; Tesar V.;
Folia Biol. (Praha) 59:110-115(2013)
Cited for: VARIANTS FSGS1 THR-427 AND ASP-748; VARIANTS VAL-784; ARG-786; LEU-787; SER-787; TYR-793; ASP-798 AND MET-801;
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.