Variant position: 539 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 679 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 EVTFDIDANGIVHVSAKDKG TGREQQIVIQSSGGLSKDDIE
Mouse EVTFDIDANGIVHVSAKDKG TGREQQIVIQSSGGLSKDDIE
Rat EVTFDIDANGIVHVSAKDKG TGREQQIVIQSSGGLSKDDIE
Bovine EVTFDIDANGIVHVSAKDKG TGREQQIVIQSSGGLSKDDIE
Chicken EVTFDIDANGIVHVSAKDKG TGREQQIVIQSSGGLSKDEIE
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
47 – 679 Stress-70 protein, mitochondrial
432 – 679 Interaction with FXN and ISCU
537 – 539
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.
Schmitz-Abe K.; Ciesielski S.J.; Schmidt P.J.; Campagna D.R.; Rahimov F.; Schilke B.A.; Cuijpers M.; Rieneck K.; Lausen B.; Linenberger M.L.; Sendamarai A.K.; Guo C.; Hofmann I.; Newburger P.E.; Matthews D.; Shimamura A.; Snijders P.J.; Towne M.C.; Niemeyer C.M.; Watson H.G.; Dziegiel M.H.; Heeney M.M.; May A.; Bottomley S.S.; Swinkels D.W.; Markianos K.; Craig E.A.; Fleming M.D.;
Cited for: INVOLVEMENT IN SIDBA4; VARIANTS SIDBA4 PRO-212; SER-388; LYS-415 AND 458-ILE-ASN-459 DEL; VARIANTS LEU-200; LYS-539; TRP-573 AND LYS-577;
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