Variant position: 212 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 TVPAYFNDSQRQATKDAGQI SGLNVLRVINEPTAAALAYGL
Mouse TVPAYFNDSQRQATKDAGQI SGLNVLRVINEPTAAALAYGL
Rat TVPAYFNDSQRQATKDAGQI SGLNVLRVINEPTAAALAYGL
Bovine TVPAYFNDSQRQATKDAGQI SGLNVLRVINEPTAAALAYGL
Chicken TVPAYFNDSQRQATKDAGQI SGLNVLRVINEPTAAALAYGL
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
1 – 432 Interaction with NFS1
206 – 206 N6-acetyllysine; alternate
206 – 206 N6-malonyllysine; alternate
206 – 206 N6-succinyllysine; alternate
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;
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.