Sequence information
Variant position: 310 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:
ENEHLMEDYEKLASDLLEWI
R RTIPWLEDRVPQKTIQEMQQ
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 ENEHLMEDYEKLASDLLEWIR RTIPWLEDRVPQKTIQEMQQ
Mouse ENEHLMEDYERLASDLLEWIR RTIPWLEDRVPQKTIQEMQQ
Rat ENEHLMEDYERLASDLLEWIR RTIPWLEDRVPQKTIQEMQQ
Bovine ENEHLMEDYERLASDLLEWIR RTIPWLEDRVPQKTIQEMQQ
Chicken ENEHLMEDYEKLASDLLEWIR RTIPWLEDRSPQKTIQEMQQ
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
Repeat
293 – 403
Spectrin 1
Alternative sequence
89 – 478
Missing. In isoform 3.
Literature citations
Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.
Buescher A.K.; Konrad M.; Nagel M.; Witzke O.; Kribben A.; Hoyer P.F.; Weber S.;
Clin. Nephrol. 78:47-53(2012)
Cited for: VARIANT FSGS1 GLN-310;
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.