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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00429: Variant p.Ser36Gly

Dynamin-1-like protein
Gene: DNM1L
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Variant information Variant position: help 36 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Serine (S) to Glycine (G) at position 36 (S36G, p.Ser36Gly). 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: help Change from small size and polar (S) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In EMPF1; autosomal recessive; impaired mitochondrial membrane fission; hypomorphic mutation retaining partial activity in mitochondrial membrane fission. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 36 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 736 The length of the canonical sequence.
Location on the sequence: help NTVGADIIQLPQIVVVGTQS S GKSSVLESLVGRDLLPRGTG 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         NTVG--ADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRGTG

Mouse                         NTVG--ADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRG

Rat                           NTVG--ADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRG

Bovine                        NTVG--ADIIQLPQIVVVGTQSSGKSSVLESLVGRDLLPRG

Zebrafish                     NTVG--ADIIQLPQIAVVGTQSSGKSSVLESLVGRDLLPRG

Caenorhabditis elegans        ATLGRKEDQIQLPQIVVVGSQSAGKSSVLENLVGRDFLPRG
Sequence annotation in neighborhood: help 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 1 – 736 Dynamin-1-like protein
Domain 22 – 302 Dynamin-type G
Region 32 – 39 G1 motif
Binding site 32 – 40
Alternative sequence 1 – 43 MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLE -> MFHKKINGKQQEKKMTLLHGKTQDTFLKGWKQKNGVNFFTPKI. In isoform 7.
Mutagenesis 34 – 34 Q -> A. Abolishes GTP hydrolysis.
Mutagenesis 38 – 38 K -> A. Loss of GTPase activity. Impairs mitochondrial division and induces changes in peroxisome morphology. No effect on oligomerization. Increase in sumoylation by SUMO3.
Mutagenesis 38 – 38 K -> E. Overexpression delays protein secretion. Rescues fragmented or truncated mitochondria in PRKN- or PINK1-depleted cells.
Mutagenesis 39 – 39 S -> A. Abolishes GTP hydrolysis.
Mutagenesis 39 – 39 S -> I. Decreased localization to the perinuclear region.
Mutagenesis 39 – 39 S -> N. Reduces peroxisomal abundance.
Mutagenesis 41 – 41 V -> F. Temperature-sensitive. Impairs mitochondrial division.
Helix 34 – 36



Literature citations
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.
Nasca A.; Legati A.; Baruffini E.; Nolli C.; Moroni I.; Ardissone A.; Goffrini P.; Ghezzi D.;
Hum. Mutat. 37:898-903(2016)
Cited for: VARIANT EMPF1 GLY-36; CHARACTERIZATION OF VARIANT EMPF1 GLY-36; FUNCTION;
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.