Variant position: 126 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 KRQAVTNPNNTFYATKRLIG RRYDDPEVQKDIKNVPFKIVR
Mouse KRQAVTNPNNTFYATKRLIG RRYDDPEVQKDTKNVPFKIVR
Rat KRQAVTNPNNTFYATKRLIG RRYDDPEVQKDTKNVPFKIVR
Bovine KRQAVTNPNNTFYATKRLIG RRYDDPEVQKDIKNVPFKIVR
Chicken KRQAVTNPHNTFYATKRLIG RRFDDSEVKKDIKNVPFKIVR
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
135 – 135 N6-acetyllysine; alternate
135 – 135 N6-succinyllysine; alternate
138 – 138 N6-acetyllysine; alternate
138 – 138 N6-succinyllysine; alternate
143 – 143 N6-acetyllysine
Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.
Royer-Bertrand B.; Castillo-Taucher S.; Moreno-Salinas R.; Cho T.J.; Chae J.H.; Choi M.; Kim O.H.; Dikoglu E.; Campos-Xavier B.; Girardi E.; Superti-Furga G.; Bonafe L.; Rivolta C.; Unger S.; Superti-Furga A.;
Sci. Rep. 5:17154-17154(2015)
Cited for: INVOLVEMENT IN EVPLS; VARIANTS EVPLS TRP-126 AND CYS-128;
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.