Variant position: 573 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 866 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 IFTNTKESSSHHPGIAEFP--S RGKSSSYSKQFT-SSTSYNRGD
Mouse ILTNIEDPSSHVP---EFS--S SSKTSTVKKQV--------
Rat IFTDIENPSSHVP---EFS--S SSKTSTVRKQV--------
Bovine EFAALGESGS-----------S SSKTSTHSKQFVSSSTTVN
Chicken KFTDLGEEEEDDFGGLQPSGFA AGSASHSKTVLTSSSSSFN
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
36 – 866 Fibrinogen alpha chain
68 – 631
560 – 560 Phosphoserine; by FAM20C
565 – 565 4-hydroxyproline; by P4HA1
558 – 558 Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-?)
575 – 575 Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-?)
581 – 581 Isoglutamyl lysine isopeptide (Lys-Gln) (interchain with Q-?)
Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain.
Benson M.D.; Liepnieks J.; Uemichi T.; Wheeler G.; Correa R.;
Nat. Genet. 3:252-255(1993)
Cited for: VARIANT AMYL8 LEU-573;
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