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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]
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:  0
The 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                         QDLPHIENGGVAVLTGKKVVQLDVRDNMVKLNDGSQITYEK

Mouse                         QDLPNIENGGVAVLTGKKVVHLDVRGNMVKLNDGSQITFEK

Rat                           QDLPHIENGGVAVLTGKKVVHLDVRGNMVKLNDGSQITFEK

Drosophila                    EDLDDNANGGIAVAQGFSVKKVDAQKRIVTLNDGYEISYDE

Slime mold                    ------GNEILQFIRTKKVIDLHIDEKLVLLNDGKLIRYDK

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.

TypePositionsDescription
Chain 102 – 613 Apoptosis-inducing factor 1, mitochondrial
Region 134 – 483 FAD-dependent oxidoreductase
Binding site 233 – 233 FAD; via amide nitrogen and carbonyl oxygen
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.