Variant position: 395 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:
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 GRTLESVDPLGGLNTIDILT AIRNATGPRPALFVPEVSFEL
Mouse GRTLESVDPLGGLNTIDILT AIRNATGPRPALFVPEVSFEL
Rat GRTLESVDPLGGLNTIDILT AIRNATGPRPALFVPEVSFEL
Bovine GRTLESVDPLGGLNTIDILT AIRNATGPRPALFVPEVSFEL
Zebrafish GRTLESVDPLGGLTTIDVLT AIRNATGPRPALFVPEVSFEL
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.
A lethal defect of mitochondrial and peroxisomal fission.
Waterham H.R.; Koster J.; van Roermund C.W.; Mooyer P.A.; Wanders R.J.; Leonard J.V.;
N. Engl. J. Med. 356:1736-1741(2007)
Cited for: FUNCTION; VARIANT EMPF1 ASP-395; CHARACTERIZATION OF VARIANT EMPF1 ASP-395;
A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.
Fahrner J.A.; Liu R.; Perry M.S.; Klein J.; Chan D.C.;
Am. J. Med. Genet. A 170:2002-2011(2016)
Cited for: VARIANT EMPF1 CYS-403; CHARACTERIZATION OF VARIANTS EMPF1 ASP-395 AND CYS-403; FUNCTION; SUBUNIT; SUBCELLULAR LOCATION;
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