Variant position: 340 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 583 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 SLLPKLSCGVKNRMHIRRKR IVGGKRAQLGDLPWQVAIKDA
Mouse SLLPKLSCGVKRNTHTRRKR VIGGKPANVGDYPWQVAIKDG
Rat SLLPKLSCGVKRNTHIRRKR VVGGKPAEMGDYPWQVAIKDG
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
19 – 583 Complement factor I
340 – 583 Complement factor I light chain
340 – 574 Peptidase S1
327 – 453 Interchain (between heavy and light chains)
A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome.
Geelen J.; van den Dries K.; Roos A.; van de Kar N.; de Kat Angelino C.; Klasen I.; Monnens L.; van den Heuvel L.;
Pediatr. Nephrol. 22:371-375(2007)
Cited for: VARIANT AHUS3 THR-340;
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.