Sequence information
Variant position: 237 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 613 The length of the canonical sequence.
Location on the sequence:
LPHIENGGVAVLTGKKVVQL
D VRDNMVKLNDGSQITYEKCL
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 LPHIENGGVAVLTGKKVVQLD VRDNMVKLNDGSQITYEKCL
Mouse LPNIENGGVAVLTGKKVVHLD VRGNMVKLNDGSQITFEKCL
Rat LPHIENGGVAVLTGKKVVHLD VRGNMVKLNDGSQITFEKCL
Drosophila LDDNANGGIAVAQGFSVKKVD AQKRIVTLNDGYEISYDECL
Slime mold ----GNEILQFIRTKKVIDLH IDEKLVLLNDGKLIRYDKCL
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
Chain
102 – 613
Apoptosis-inducing factor 1, mitochondrial
Region
134 – 483
FAD-dependent oxidoreductase
Binding site
233 – 233
Cross
255 – 255
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Alternative sequence
1 – 352
Missing. In isoform 5.
Alternative sequence
36 – 322
Missing. In isoform 2.
Alternative sequence
44 – 613
Missing. In isoform 6.
Beta strand
233 – 237
Literature citations
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
Miyake N.; Wolf N.I.; Cayami F.K.; Crawford J.; Bley A.; Bulas D.; Conant A.; Bent S.J.; Gripp K.W.; Hahn A.; Humphray S.; Kimura-Ohba S.; Kingsbury Z.; Lajoie B.R.; Lal D.; Micha D.; Pizzino A.; Sinke R.J.; Sival D.; Stolte-Dijkstra I.; Superti-Furga A.; Ulrick N.; Taft R.J.; Ogata T.; Ozono K.; Matsumoto N.; Neubauer B.A.; Simons C.; Vanderver A.;
Neurogenetics 18:185-194(2017)
Cited for: VARIANTS SEMDHL HIS-235; GLY-237 AND VAL-237; CHARACTERIZATION OF VARIANT SEMDHL HIS-235; INVOLVEMENT IN SEMDHL; TISSUE SPECIFICITY;
Disclaimer:
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.