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UniProtKB/Swiss-Prot O95831 : Variant p.Gln235His
Apoptosis-inducing factor 1, mitochondrial
Gene: AIFM1
Variant information
Variant position: 235 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LP/P [Disclaimer : Variants classification is intended for research purposes only, not for clinical and diagnostic use . The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant. ]The variants are classified into three categories: LP/P, LB/B and US.LP/P: likely pathogenic or pathogenic. LB/B: likely benign or benign. US: uncertain significance
Residue change: From Glutamine (Q) to Histidine (H) at position 235 (Q235H, p.Gln235His).Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: Similar physico-chemical property. Both residues are medium size and polar.The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 0The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another: Lowest score: -4 (low probability of substitution).Highest score: 11 (high probability of substitution). More information can be found on the following page
Variant description: In SEMDHL; severe decrease of protein expression.Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.
Sequence information
Variant position: 235 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:
QDLPHIENGGVAVLTGKKVV
Q LDVRDNMVKLNDGSQITYEK
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 QDLPHIENGGVAVLTGKKVVQ LDVRDNMVKLNDGSQITYEK
Mouse QDLPNIENGGVAVLTGKKVVH LDVRGNMVKLNDGSQITFEK
Rat QDLPHIENGGVAVLTGKKVVH LDVRGNMVKLNDGSQITFEK
Drosophila EDLDDNANGGIAVAQGFSVKK VDAQKRIVTLNDGYEISYDE
Slime mold ------GNEILQFIRTKKVID LHIDEKLVLLNDGKLIRYDK
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.