Sequence information
Variant position: 262 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:
DAEDIVNTARPDEKAIMTYV
S SFYHAFSGAQKAETAANRIC
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 DAEDIVNTARPDEKAIMTYVS SFYHAFSGAQKAETAANRIC
Mouse DAEDIVNTARPDEKAIMTYVS SFYHAFSGAQKAETAANRIC
Rat DAEDIVNTARPDEKAIMTYVS SFYHAFSGAQKAETAANRIC
Bovine DAEDIVNTARPDEKAIMTYVS SFYHAFSGAQKAETAANRIC
Chicken DAEDIVNTARPDEKAIMTYVS SFYHAFSGAQKAETAANRIC
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
1 – 911
Alpha-actinin-4
Domain
163 – 269
Calponin-homology (CH) 2
Region
1 – 269
Actin-binding
Modified residue
249 – 249
Phosphothreonine
Alternative sequence
54 – 272
Missing. In isoform ACTN4ISO.
Alternative sequence
89 – 478
Missing. In isoform 3.
Helix
254 – 268
Literature citations
Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism.
Choi H.J.; Lee B.H.; Cho H.Y.; Moon K.C.; Ha I.S.; Nagata M.; Choi Y.; Cheong H.I.;
Am. J. Kidney Dis. 51:834-838(2008)
Cited for: VARIANT FSGS1 PHE-262;
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.