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UniProtKB/Swiss-Prot O00429: Variant p.Leu406Ser

Dynamin-1-like protein
Gene: DNM1L
Chromosomal location: 12p11.21
Variant information

Variant position:  406
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Leucine (L) to Serine (S) at position 406 (L406S, p.Leu406Ser).
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:  Change from medium size and hydrophobic (L) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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

Involvement in disease:  Encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1) [MIM:614388]: A rare autosomal dominant systemic disorder resulting in lack of neurologic development and death in infancy. After birth, infants present in the first week of life with poor feeding and neurologic impairment, including hypotonia, little spontaneous movement, no tendon reflexes, no response to light stimulation, and poor visual fixation. Other features include mildly elevated plasma concentration of very-long-chain fatty acids, lactic acidosis, microcephaly, deep-set eyes, optic atrophy and hypoplasia, and an abnormal gyral pattern in both frontal lobes associated with dysmyelination. {ECO:0000269|PubMed:17460227, ECO:0000269|PubMed:26604000, ECO:0000269|PubMed:26992161, ECO:0000269|PubMed:27145208, ECO:0000269|PubMed:27301544, ECO:0000269|PubMed:27328748, ECO:0000269|PubMed:29899447}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In EMPF1; impaired mitochondrial and peroxisomal membrane fission.
Any additional useful information about the variant.



Sequence information

Variant position:  406
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  736
The length of the canonical sequence.

Location on the sequence:   GLNTIDILTAIRNATGPRPA  L FVPEVSFELLVKRQIKRLEE
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                         GLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEE

Mouse                         GLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEE

Rat                           GLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEE

Bovine                        GLNTIDILTAIRNATGPRPALFVPEVSFELLVKRQIKRLEE

Zebrafish                     GLTTIDVLTAIRNATGPRPALFVPEVSFELLVKRQVKRLEE

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 1 – 736 Dynamin-1-like protein
Region 344 – 489 Middle domain


Literature citations

DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst.
Zaha K.; Matsumoto H.; Itoh M.; Saitsu H.; Kato K.; Kato M.; Ogata S.; Murayama K.; Kishita Y.; Mizuno Y.; Kohda M.; Nishino I.; Ohtake A.; Okazaki Y.; Matsumoto N.; Nonoyama S.;
Clin. Genet. 90:472-474(2016)
Cited for: VARIANT EMPF1 SER-406; CHARACTERIZATION OF VARIANT EMPF1 SER-406; 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.