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:
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 DAEDIVNTARPDEKAIMTYV SSFYHAFSGAQKAETAANRIC
Mouse DAEDIVNTARPDEKAIMTYV SSFYHAFSGAQKAETAANRIC
Rat DAEDIVNTARPDEKAIMTYV SSFYHAFSGAQKAETAANRIC
Bovine DAEDIVNTARPDEKAIMTYV SSFYHAFSGAQKAETAANRIC
Chicken DAEDIVNTARPDEKAIMTYV SSFYHAFSGAQKAETAANRIC
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
163 – 269 Calponin-homology (CH) 2
1 – 269 Actin-binding
249 – 249 Phosphothreonine
54 – 272 Missing. In isoform ACTN4ISO.
89 – 478 Missing. In isoform 3.
254 – 268
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;
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